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1دورية أكاديمية
المؤلفون: Sheri A. Poskanzer, Loren D.M. Peña, Zhiyv Niu
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100771- (2023)
مصطلحات موضوعية: Achondroplasia, Linear growth, Pediatrics, Vosoritide, Genetics, QH426-470, Medicine
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423007719Test; https://doaj.org/toc/2949-7744Test; https://doaj.org/article/1ca5ecaa2c8f4a5a8b62fb22a2880077Test
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100771Test
https://doaj.org/article/1ca5ecaa2c8f4a5a8b62fb22a2880077Test -
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المؤلفون: Yang Zhao, Raymond Y. Wang, Nancy D. Leslie, Priya S. Kishnani, David Kronn, Jennifer L. Goldstein, John W. Day, James B. Gibson, Kristina An Haack, Susan Sparks, David W. Stockton, Pranoot Tanpaiboon, Loren D.M. Pena, Si Houn Hahn, Richard Hillman, Michael J. Gambello
المصدر: Genetics in Medicine
مصطلحات موضوعية: Male, medicine.medical_specialty, alglucosidase alfa, Adolescent, Genotype, Disease, glycogenosis type 2, Article, Pulmonary function testing, Cohort Studies, Internal medicine, Humans, Medicine, Gross motor function, late-onset Pompe disease (LOPD), Enzyme Replacement Therapy, Prospective Studies, Child, Alglucosidase alfa, Genetics (clinical), Glycogen Storage Disease Type II, business.industry, Infant, GAA pathogenic variants, alpha-Glucosidases, Baseline data, United States, infantile-onset Pompe disease (IOPD), Phenotype, Child, Preschool, Cohort, Female, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e5f6bddac6c1bf107ecaba20545014Test
https://doi.org/10.1038/s41436-019-0527-9Test -
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المؤلفون: David Kronn, Kristina An Haack, James B. Gibson, Si Houn Hahn, Meredith C. Foster, Raymond Y. Wang, Pranoot Tanpaiboon, David W. Stockton, Priya S. Kishnani, Barry J. Byrne, Steven D. Colan, Loren D.M. Pena, Judith Johnson, Susan Sparks, Nancy D. Leslie, Richard Hillman
المصدر: Cardiology in the young. 32(3)
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Cardiomyopathy, Cardiomegaly, Cohort Studies, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Alglucosidase alfa, medicine.diagnostic_test, business.industry, Glycogen Storage Disease Type II, General Medicine, Enzyme replacement therapy, medicine.disease, Confidence interval, Blood pressure, Phenotype, Concomitant, Pediatrics, Perinatology and Child Health, Cohort, Cardiology, Cardiology and Cardiovascular Medicine, business, Electrocardiography, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c49cc75035795f7f43d93fd7526957Test
https://pubmed.ncbi.nlm.nih.gov/34420548Test -
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المؤلفون: Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, Philippe M. Campeau, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David P. Bick, Camille L. Birch, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary D. Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell-Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos Ferreira, Brent L. Fogel, Noah D. Friedman, William A. Gahl, Emily Glanton, Rena A. Godfrey, David B. Goldstein, Sarah E. Gould, Jean-Philippe F. Gourdine, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Matthew R. Herzog, Ingrid A. Holm, Jason Hom, Ellen M. Howerton, Yong Huang, Howard J. Jacob, Mahim Jain, Jean M. Johnston, Angela L. Jones, Isaac S. Kohane, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Seema R. Lalani, C. Christopher Lau, Jozef Lazar, Hane Lee, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Allen Lipson, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Ronit Marom, Julian A. Martínez-Agosto, Shruti Marwaha, Thomas May, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Matthew Might, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, Jennifer L. Murphy, Donna M. Muzny, Michele E. Nehrebecky, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Jordan S. Orange, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Loren D.M. Pena, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Chloe M. Reuter, Amy K. Robertson, Lance H. Rodan, Jacinda B. Sampson, Susan L. Samson, Kelly Schoch, Molly C. Schroeder, Daryl A. Scott, Prashant Sharma, Rebecca Signer, Edwin K. Silverman, Janet S. Sinsheimer, Kevin S. Smith, Kimberly Splinter, Joan M. Stoler, David A. Sweetser, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Zaheer M. Valivullah, Eric Vilain, Tiphanie P. Vogel, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Patricia A. Ward, Katrina M. Waters, Monte Westerfield, Anastasia L. Wise, Lynne A. Wolfe, Elizabeth A. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Diane B. Zastrow, Allison Zheng
المساهمون: Clinical Genetics
المصدر: American Journal of Human Genetics, 104(1), 164. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
American Journal of Human Genetics, 104(1), 164-178. Cell Press
American Journal of Human Genetics, 104, 1, pp. 164-178
American Journal of Human Genetics, 104, 164-178مصطلحات موضوعية: Male, 0301 basic medicine, Hypertrichosis, speech delay, Bafopathy, Developmental Disabilities, CACNB4, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Bafopathy, developmental delay, dysmorphisms, genotype-phenotype correlation, intellectual disability, neurodevelopmental disorder, speech delay, transcriptome, Genetics(clinical), Child, Genetics (clinical), Genetics, Syndrome, Hypotonia, DNA-Binding Proteins, developmental delay, Corticogenesis, intellectual disability, Child, Preschool, Speech delay, Female, medicine.symptom, Hand Deformities, Congenital, dysmorphisms, Adolescent, Micrognathism, genotype-phenotype correlation, Biology, Chromatin remodeling, 03 medical and health sciences, Journal Article, medicine, Humans, Abnormalities, Multiple, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], medicine.disease, neurodevelopmental disorder, Reelin Protein, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Face, Mutation, biology.protein, transcriptome, Neck, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: image/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18570394165a5f2fabd3e705d39672a5Test
https://doi.org/10.1016/j.ajhg.2018.11.007Test -
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المؤلفون: Philip Van Damme, Pascal Laforêt, Benedikt Schoser, Barry J. Byrne, Loren D.M. Pena, Richard J. Barohn, Ozlem Goker-Alpan, Kerry Culm-Merdek, Ans T. van der Ploeg, Volker Straub, Karl Eugen Mengel, Beth L. Thurberg, Jean Pouget, Raheel Shafi, Katherine Kacena, Alan Pestronk, Peter Young, John Vissing, Shafeeq Ladha, Claude Desnuelle, Jaya Trivedi
المساهمون: Pediatrics
المصدر: Neuromuscular Disorders, 29(3), 167-186. Elsevier Ltd.
NEO1 Investigator Group 2019, ' Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease : A phase 1, open-label, multicenter, multinational, ascending dose study ', Neuromuscular Disorders, vol. 29, no. 3, pp. 167-186 . https://doi.org/10.1016/j.nmd.2018.12.004Testمصطلحات موضوعية: Avalglucosidase alfa (neoGAA), 0301 basic medicine, Male, GLUCOSE TETRASACCHARIDE, Lysosomal acid alpha-glucosidase (GAA) deficiency, CHILDREN, Pulmonary function testing, MOTOR FUNCTION, 0302 clinical medicine, Medicine, Genetics (clinical), Late-onset Pompe disease (LOPD), Glycogen Storage Disease Type II, Alglucosidase alfa, MOUSE MODEL, Enzyme replacement therapy, Middle Aged, Treatment Outcome, Neurology, Tolerability, SKELETAL-MUSCLE, Female, Life Sciences & Biomedicine, MUSCLE TRAINING RMT, Glycogen, 6-MINUTE WALK, medicine.drug, Adult, medicine.medical_specialty, Clinical Neurology, GLYCOGEN, 03 medical and health sciences, FEV1/FVC ratio, Pharmacokinetics, Internal medicine, Humans, Enzyme Replacement Therapy, Adverse effect, Science & Technology, business.industry, Neurosciences, alpha-Glucosidases, ADULTS, Glycogen storage disease type II, SEVERITY, 030104 developmental biology, Pharmacodynamics, Pediatrics, Perinatology and Child Health, Neurosciences & Neurology, Neurology (clinical), Glucan 1,4-alpha-Glucosidase, business, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2f385d766335b6e27ce068b0b3a3b8Test
https://doi.org/10.1016/j.nmd.2018.12.004Test -
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المؤلفون: Pranoot Tanpaiboon, Michael J. Gambello, Loren D.M. Pena, John W. Day, Raymond Y. Wang, David Kronn, James B. Gibson, Raheel Shafi, Catherine Wilson, Priya S. Kishnani, Kristina An Haack, Si Houn Hahn, David W. Stockton, Yang Zhao, Richard Hillman, Susan Sparks, Nancy D. Leslie
المصدر: Genetics in Medicine. 20:1284-1294
مصطلحات موضوعية: 0301 basic medicine, Vital capacity, medicine.medical_specialty, business.industry, Immunogenicity, Cardiomyopathy, Liter, Disease, medicine.disease, 03 medical and health sciences, Safety profile, 030104 developmental biology, 0302 clinical medicine, Internal medicine, medicine, Prospective cohort study, business, Alglucosidase alfa, 030217 neurology & neurosurgery, Genetics (clinical), medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7d4135cde37504190e52c09116950560Test
https://doi.org/10.1038/gim.2018.2Test -
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المؤلفون: Rachel B. Ramoni, John J. Mulvihill, David R. Adams, Patrick Allard, Euan A. Ashley, Jonathan A. Bernstein, William A. Gahl, Rizwan Hamid, Joseph Loscalzo, Alexa T. McCray, Vandana Shashi, Cynthia J. Tifft, Anastasia L. Wise, Christopher J. Adams, Mercedes E. Alejandro, Mashid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Alan H. Beggs, Hugo J. Bellen, David Bernick, Anna Bican, David P. Bick, Camille L. Birch, Braden E. Boone, Lauren C. Briere, Donna M. Brown, Catherine A. Brownstein, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Katherine R. Chao, Gary D. Clark, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Laurel A. Donnell-Fink, Naghmeh Dorrani, Daniel C. Dorset, David D. Draper, Annika M. Dries, Rachel Eastwood, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Paul G. Fisher, Trevor S. Frisby, Kate Frost, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, David B. Goldstein, Mary 'Gracie' G. Gordon, Sarah E. Gould, Jean-Philippe F. Gourdine, Brett H. Graham, Catherine A. Groden, Andrea L. Gropman, Mary E. Hackbarth, Melissa Haendel, Neil A. Hanchard, Lori H. Handley, Isabel Hardee, Matthew R. Herzog, Ingrid A. Holm, Ellen M. Howerton, Brenda Iglesias, Howard J. Jacob, Mahim Jain, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, Alanna E. Koehler, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Jozef Lazar, Brendan H. Lee, Hane Lee, Paul R. Lee, Shawn E. Levy, Denise J. Levy, Richard A. Lewis, Adam P. Liebendorder, Sharyn A. Lincoln, Carson R. Loomis, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Casey Martin, Paul Mazur, Alexandra J. McCarty, Allyn McConkie-Rosell, Thomas O. Metz, Matthew Might, Paolo M. Moretti, Jennifer L. Murphy, Donna M. Muzny, Michele E. Nehrebecky, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Jordan S. Orange, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Loren D.M. Pena, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Sarah Sadozai, Katherine E. Schaffer, Kelly Schoch, Molly C. Schroeder, Daryl A. Scott, Prashant Sharma, Edwin K. Silverman, Janet S. Sinsheimer, Ariane G. Soldatos, Rebecca C. Spillmann, Kimberly Splinter, Joan M. Stoler, Nicholas Stong, Kimberly A. Strong, Jennifer A. Sullivan, David A. Sweetser, Sara P. Thomas, Nathanial J. Tolman, Camilo Toro, Alyssa A. Tran, Zaheer M. Valivullah, Eric Vilain, Daryl M. Waggott, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Michael F. Wangler, Mike Warburton, Patricia A. Ward, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Alec A. Weech, Monte Westerfield, Matthew T. Wheeler, Lynne A. Wolfe, Elizabeth A. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Patricia A. Zornio
المصدر: The American Journal of Human Genetics. 100:185-192
مصطلحات موضوعية: 0301 basic medicine, Knowledge management, Genotype, Genotyping Techniques, Best practice, Disease, 030105 genetics & heredity, Bioinformatics, 03 medical and health sciences, Rare Diseases, Diagnostic model, Common fund, Genetics, Humans, Metabolomics, Functional studies, Genetics (clinical), Information Dissemination, business.industry, Disease mechanisms, Sequence Analysis, DNA, United States, Research objectives, Data sharing, Phenotype, 030104 developmental biology, National Institutes of Health (U.S.), Commentary, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcf1df719c16758187f8c0be2fac6ffcTest
https://doi.org/10.1016/j.ajhg.2017.01.006Test -
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المؤلفون: Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara M. Skraban, Matthew A. Deardorff, Jeremy N. Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martinez-Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Wayne W. Grody, Samuel P. Strom, Eric Vilain, Joshua Deignan, Fabiola Quintero-Rivera, Sibel Kantarci, Sureni Mullegama, Sung-Hae Kang, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary D. Clark, William J. Craigen, Shweta U. Dhar, Lisa T. Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan H. Lee, Richard A. Lewis, Azamian S. Mashid, Paolo M. Moretti, Sarah K. Nicholas, Jordan S. Orange, Lorraine Potocki, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Andrea L. Gropman, Yong-hui Jiang, Loren D.M. Pena, Rebecca C. Spillmann, Jennifer A. Sullivan, Nicole M. Walley, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell-Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Chris A. Walsh, Cecilia Esteves, Ingrid A. Holm, Isaac S. Kohane, Paul Mazur, Alexa T. McCray, Matthew Might, Rachel B. Ramoni, Kimberly Splinter, David P. Bick, Camille L. Birch, Braden E. Boone, Donna M. Brown, Dan C. Dorset, Lori H. Handley, Howard J. Jacob, Angela L. Jones, Jozef Lazar, Shawn E. Levy, J. Scott Newberry, Molly C. Schroeder, Kimberly A. Strong, Elizabeth A. Worthey, Jyoti G. Dayal, David J. Eckstein, Sarah E. Gould, Ellen M. Howerton, Donna M. Krasnewich, Carson R. Loomis, Laura A. Mamounas, Teri A. Manolio, John J. Mulvihill, Anastasia L. Wise, Ariane G. Soldatos, Matthew Brush, Jean-Philippe F. Gourdine, Melissa Haendel, David M. Koeller, Jennifer E. Kyle, Thomas O. Metz, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Euan A. Ashley, Jonathan A. Bernstein, Annika M. Dries, Paul G. Fisher, Jennefer N. Kohler, Daryl M. Waggott, Matt T. Wheeler, Patricia A. Zornio, Patrick Allard, Hayk Barseghyan, Esteban C. Dell’Angelica, Katrina M. Dipple, Matthew R. Herzog, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Janet S. Sinsheimer, Christopher J. Adams, Elizabeth A. Burke, Katherine R. Chao, Mariska Davids, David D. Draper, Tyra Estwick, Trevor S. Frisby, Kate Frost, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, Mary 'Gracie' G. Gordon, Catherine A. Groden, Mary E. Hackbarth, Isabel Hardee, Jean M. Johnston, Alanna E. Koehler, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Denise J. Levy, Adam P. Liebendorder, Ellen F. Macnamara, Valerie V. Maduro, Thomas C. Markello, Alexandra J. McCarty, Jennifer L. Murphy, Michele E. Nehrebecky, Donna Novacic, Barbara N. Pusey, Sarah Sadozai, Katherine E. Schaffer, Prashant Sharma, Sara P. Thomas, Nathanial J. Tolman, Camilo Toro, Zaheer M. Valivullah, Colleen E. Wahl, Mike Warburton, Alec A. Weech, Guoyun Yu, David R. Adams, William A. Gahl, May Christine V. Malicdan, Cynthia J. Tifft, Lynne A. Wolfe, Paul R. Lee, John H. Postlethwait, Monte Westerfield, Anna Bican, Rizwan Hamid, John H. Newman, John A. Phillips, Amy K. Robertson, Joy D. Cogan
المصدر: The American Journal of Human Genetics. 100:343-351
مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Mutation, Missense, Biology, Cataract, Germline, 03 medical and health sciences, Neurodevelopmental disorder, Cataracts, Report, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Child, Alleles, Genetics (clinical), Cerebral atrophy, Brain, Genetic Variation, Infant, medicine.disease, Magnetic Resonance Imaging, Neoplasm Proteins, Pedigree, 3. Good health, Repressor Proteins, Phenotype, 030104 developmental biology, Child, Preschool, Failure to thrive, Female, medicine.symptom, Spasms, Infantile, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8910f952c879a58bfc4156ed97d28079Test
https://doi.org/10.1016/j.ajhg.2016.12.013Test -
9
المؤلفون: Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G. Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K. Johnson, Coral G. Warr, Shinya Yamamoto, David R. Adams, Thomas C. Markello, William A. Gahl, Hugo J. Bellen, Michael F. Wangler, May Christine V. Malicdan, Christopher J. Adams, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Alan H. Beggs, Jonathan A. Bernstein, David P. Bick, Camille L. Birch, Braden E. Boone, Lauren C. Briere, Donna M. Brown, Matthew Brush, Lindsay C. Burrage, Katherine R. Chao, Gary D. Clark, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Jyoti G. Dayal, Esteban C. Dell'Angelica, Shweta U. Dhar, Katrina M. Dipple, Laurel A. Donnell-Fink, Naghmeh Dorrani, Dan C. Dorset, David D. Draper, Annika M. Dries, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Paul G. Fisher, Trevor S. Frisby, Kate Frost, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen A. Golas, David B. Goldstein, Mary 'Gracie' G. Gordon, Sarah E. Gould, Jean-Philippe F. Gourdine, Brett H. Graham, Catherine A. Groden, Andrea L. Gropman, Mary E. Hackbarth, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Isabel Hardee, Matthew R. Herzog, Ingrid A. Holm, Ellen M. Howerton, Howard J. Jacob, Mahim Jain, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, Alanna E. Koehler, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Jozef Lazar, Brendan H. Lee, Hane Lee, Paul R. Lee, Shawn E. Levy, Denise J. Levy, Richard A. Lewis, Adam P. Liebendorder, Sharyn A. Lincoln, Carson R. Loomis, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Laura A. Mamounas, Teri A. Manolio, Azamian S. Mashid, Paul Mazur, Allyn McConkie-Rosell, Alexa T. McCray, Thomas O. Metz, Matthew Might, Paolo M. Moretti, John J. Mulvihill, Jennifer L. Murphy, Donna M. Muzny, Michele E. Nehrebecky, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Jordan S. Orange, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Loren D.M. Pena, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Rachel B. Ramoni, Lance H. Rodan, Sarah Sadozai, Katherine E. Schaffer, Kelly Schoch, Molly C. Schroeder, Daryl A. Scott, Prashant Sharma, Vandana Shashi, Edwin K. Silverman, Janet S. Sinsheimer, Ariane G. Soldatos, Rebecca C. Spillmann, Kimberly Splinter, Joan M. Stoler, Kimberly A. Strong, Jennifer A. Sullivan, David A. Sweetser, Sara P. Thomas, Cynthia J. Tift, Nathanial J. Tolman, Alyssa A. Tran, Zaheer M. Valivullah, Eric Vilain, Daryl M. Waggott, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Mike Warburton, Patricia A. Ward, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Alec A. Weech, Monte Westerfield, Matt T. Wheeler, Anastasia L. Wise, Lynne A. Worthe, Elizabeth A. Worthey, Yaping Yang, Guoyun Yu, Patricia A. Zornio
المصدر: The American Journal of Human Genetics. 100:128-137
مصطلحات موضوعية: Central Nervous System, Male, 0301 basic medicine, Ataxia, Developmental Disabilities, Biology, Speech Disorders, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual Disability, Report, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genitalia, Global developmental delay, Child, Transcription factor, Genetics (clinical), Zinc finger, Infant, Newborn, Infant, Zinc Fingers, Syndrome, medicine.disease, Hypotonia, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, Mutation, Muscle Hypotonia, Homeobox, Female, medicine.symptom, 030217 neurology & neurosurgery, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d25b21a3ba37c25a1d893e62f7a2abb1Test
https://doi.org/10.1016/j.ajhg.2016.11.018Test -
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المؤلفون: Rani H. Singh, Marybeth Hummel, Susan Romie, Sheela Shrestha, Chin to Fong, Katie Coakley, Hilary J. Vernon, Dennis Bartholomew, Kelly E. Jackson, Kristin D'Aco, Dwight D. Koeberl, Paula Engelking, Mathew J. Edick, Melissa Samons, Nancy D. Leslie, David Dimmock, Joyanna Hansen, Sandy vanCalcar, Sonja Henry, Barbara Burton, Sarah G. Hainline, Rebecca Loman, Cecilia Rajakaruna, Esperanza Font-Montgomery, Alvaro H. Serrano Russi, Cynthia A. Cameron, Ada Hamosh, Jennie Wilkins, Georgianne L. Arnold, Nancy Ambrose, Cassie Bird, Alexander Asamoah, Yong-hui Jiang, Nancy Smith, David Kronn, Melanie Goff, Emily Phillips, Jerry Vockley, Lauren Dwyer, Sangeetha Lakshman, Adrya Stembridge, Gerald Feldman, Cate Walsh-Vockley, Paul Levy, Barbara K. Burton, Quinn Stein, Loren D.M. Pena, Priya S. Kishnani, Susan Berry, Laura Davis-Keppen, Melinda Dodge, William B. Rizzo, Machelle Dawson, George Hoganson, Kristi Bentler, Kaitlin Justice, Ayesha Ahmad, Richard Erbe, Sara A. Elsbecker, Theresa Hart, Jessica Scott Schwoerer, Susan A. Berry, Shaohui Zhai, William J. Rhead, Tara Chandra Narumanchi, Bryan Hainline, Dawn Peck, Kara Goodin, Sara Elsbecker, Sally J. Hiner, Janet Thomas, Ashley Swan, Racheal Powers, Sue Lipinski, Clare Edano, Georgianne Arnold
المصدر: Molecular Genetics and Metabolism. 119:75-82
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, Biochemistry, Article, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, 03 medical and health sciences, Neonatal Screening, Endocrinology, Genetics, medicine, Humans, Molecular Biology, ACADM, Newborn screening, business.industry, Homozygote, Infant, Newborn, medicine.disease, MCADD, Low birth weight, 030104 developmental biology, Inborn error of metabolism, Mutation, Cohort, Female, medicine.symptom, business, Metabolism, Inborn Errors, ACADM Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32be21d3dd8798aa4118a7a4fd6b6818Test
https://doi.org/10.1016/j.ymgme.2016.07.002Test