المؤلفون: Siddarth Aryaman Nosib, Shravankumar Nosib, Wan Cheol Kim, Edmond G. Lemire

المصدر: CJC Open

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Long QT syndrome, Case Report, Torsades de pointes, A300, Bleed, medicine.disease, Ventricular tachycardia, QT interval, Gastroenterology, Frameshift mutation, Channelopathy, Internal medicine, Mutation (genetic algorithm), medicine, Cardiology and Cardiovascular Medicine, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dac083505d2657be04af3d6985df3afcTest
https://doi.org/10.1016/j.cjco.2021.06.005Test

المؤلفون: Ranji Chibbar, John A Gjevre, Francis Shih, Heather Neufeld, Edmond G Lemire, Derek A Fladeland, Donald W Cockcroft

المصدر: Canadian Respiratory Journal, Vol 17, Iss 6, Pp 269-274 (2010)

مصطلحات موضوعية: Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1198-2241Test

الوصول الحر: https://doaj.org/article/038a90b29dde46d9bbe305aba573a92aTest

المؤلفون: Jonathan Rodgers, Antonia Marchese, Frances Elmslie, Claudine Rieubland, Noriko Miyake, Sophie Julia, Ingrid Scurr, Emmanuel Scalais, Diana S. Johnson, Elise Brischoux-Boucher, Melissa Byler, Lisa Bradley, Julie McGaughran, Siddharth Banka, Maria Gnazzo, Robert Roger Lebel, Stephanie Goh, Damien Lederer, Jane A. Hurst, Maria Cristina Digilio, Ineke van der Burgt, Nobuhiko Okamoto, Mohnish Suri, Víctor Faundes, Rhoda Akilapa, Harinder Gill, Hans T. Bjornsson, Edmond G. Lemire, Saskia Bulk, Katherine Lachlan, Han G. Brunner, Andrew E. Fry, Eric Gershon, Maria Lisa Dentici, Erina Sasaki, Valérie Benoit, Heidre Bezuidenhout, Natalie Canham, Naomichi Matsumoto, Angela F. Brady, Declan Cody, Meriel McEntagart, Seiji Mizuno, Francesca Romana Lepri

المصدر: Web of Science
Faundes, V, Goh, S, Akilapa, R, Bezuidenhout, H, Bjornsson, H T, Brady, A F, Brischoux-Boucher, E, Brunner, H, Bulk, S, Canham, N, Cody, D, Dentici, M L, Digilio, M C, Elmslie, F, Fry, A E, Gill, H, Hurst, J, Johnson, D, Julia, S, Lachlan, K, Lebel, R R, Byler, M, Gershon, E, Lemire, E, Gnazzo, M, Lepri, F R, Marchese, A, McEntagart, M, McGaughran, J, Mizuno, S, Okamoto, N, Rieubland, C, Sasaki, E, Scalais, E, Scurr, I, Suri, M, van der Burgt, I, Matsumoto, N, Miyake, N, Benoit, V, Lederer, D & Banka, S 2021, ' Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01119-8Test
Genetics in Medicine
Genetics in Medicine, 23, 7, pp. 1202-1210
Genetics in Medicine, 23, 1202-1210
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8 <http://dx.doi.org/10.1038/s41436-021-01119-8Test>

مصطلحات موضوعية: Male, 0301 basic medicine, Joint hypermobility, Microcephaly, Hearing loss, 610 Medicine & health, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Intellectual Disability, Intellectual disability, medicine, Humans, Missense mutation, Abnormalities, Multiple, Genetic Association Studies, Genetics (clinical), Histone Demethylases, Genetics, Sex Characteristics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Variant type, Infant, Newborn, medicine.disease, Hematologic Diseases, Phenotype, Neoplasm Proteins, DNA-Binding Proteins, 030104 developmental biology, Vestibular Diseases, Face, Female, medicine.symptom, Kabuki syndrome

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf9501e03c8ad1cdd39bcc6f535c4fbTest

المؤلفون: Edmond G Lemire

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/19/c3/J_Med_Case_Reports_2007_Jul_23_1_54.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.279.6239Test

المؤلفون: Rajni Chibbar, Ganeshwaran H. Mochida, A. James Barkovich, Ulrich Tschulena, Jun Shen, R. Sean Hill, Gilad D. Evrony, Antonella Galli, Chloe Santos, Danielle Tierney, Sheldon Wiebe, M. Jocelyne Martel, Christopher A. Walsh, Jillian M. Richardson, Divya Jayaraman, Betty Anne Spooner, Patricia Blakley, Steven C. Ryu, Stefan Wiemann, Dianne Gerrelli, Dana Diudea, Michael E. Coulter, Timothy W. Yu, James Irvine, Edmond G. Lemire, Victoria Morrison, Rebecca D. Folkerth, Princess C. Elhosary, Diana G. Diaz, Anh Thu N. Lam, Rachel E. Rodin, Dwight R. Cordero, Christopher A. Robinson, Jennifer N. Partlow

المصدر: Genome Research. 27:1323-1335

مصطلحات موضوعية: 0301 basic medicine, Genetics, Cancer genome sequencing, Whole genome sequencing, Genome evolution, Genome project, Biology, Bioinformatics, Genome, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, Gene, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0a54f506629ee09ca150b18a609e5925Test
https://doi.org/10.1101/gr.219899.116Test

المؤلفون: Tara Scriver, Rikash Jokhan, Jeremy R. Parr, Barbara Kellam, Edmond G. Lemire, Worrawat Engchuan, Stephen W. Scherer, Mehdi Zarrei, Dimitri J. Stavropoulos, Daniele Merico, Michael D. Wilson

المصدر: American Journal of Medical Genetics Part A. 173:1287-1293

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, alpha7 Nicotinic Acetylcholine Receptor, Biology, Cerebral palsy, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Language Development Disorders, Copy-number variation, Genetics (clinical), Muscular hypotonia, Cerebral Palsy, CHRNA7, Exons, Microdeletion syndrome, medicine.disease, 030104 developmental biology, Speech delay, biology.protein, Chromosome Deletion, Chromosomes, Human, Pair 4, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe85379389ed65172992c174f9d7a5dfTest
https://doi.org/10.1002/ajmg.a.38176Test

المؤلفون: Ryan E. Lamont, Carole Ober, Candice Jackel-Cram, Rebecca Sparkes, A. Micheil Innes, Francois P. Bernier, Edmond G. Lemire, Jillian S. Parboosingh, Chandree L. Beaulieu

المصدر: American Journal of Medical Genetics Part A. 173:596-600

مصطلحات موضوعية: Male, 0301 basic medicine, Canada, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Genotype, DNA Mutational Analysis, Population, Consanguinity, Biology, Polymorphism, Single Nucleotide, Frameshift mutation, 03 medical and health sciences, Ethnicity, Genetics, medicine, Humans, Leigh disease, Frameshift Mutation, education, Genetic Association Studies, Genetics (clinical), Oligonucleotide Array Sequence Analysis, education.field_of_study, Electron Transport Complex I, Siblings, NDUFS4, Infant, NADH Dehydrogenase, medicine.disease, Magnetic Resonance Imaging, United States, Hypotonia, Pedigree, Phenotype, 030104 developmental biology, Mitochondrial respiratory chain, Female, Leigh Disease, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dfa421a0e3b9c89b66541889f74626fTest
https://doi.org/10.1002/ajmg.a.37983Test

المؤلفون: Berivan Baskin, Paige A. Rebeiro, Leslie Steele, Peter N. Ray, Jennifer Orr, Dimitri J. Stavropoulos, Kym M. Boycott, William T. Gibson, Christian R. Marshall, Edmond G. Lemire, Martin Li

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Duchenne muscular dystrophy, musculoskeletal diseases, replication, congenital, hereditary, and neonatal diseases and abnormalities, mRNA, rearrangement, dystrophin, Exon, Gene duplication, Genetics, medicine, MMRDR, Multiplex ligation-dependent probe amplification, Copy-number variation, Molecular Biology, Genetics (clinical), Medicinsk genetik, biology, Breakpoint, Original Articles, medicine.disease, Chromosome 4, biology.protein, Dystrophin, Medical Genetics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fdb80d2c33f222547759c8faba8eca9Test
https://doi.org/10.1002/mgg3.108Test

المؤلفون: Eitan Friedman, Peter Ainsworth, Ava Kwong, Jacek Gronwald, Sofia D. Merajver, John Lunn, Andrea Eisen, Talia Donenberg, Wendy S. Meschino, Rochelle Demsky, Taya Fallen, Fergus J. Couch, Joanne L. Blum, Albert E. Chudley, Charis Eng, Raluca N. Kurz, Kelly A. Metcalfe, Mary B. Daly, Aletta Poll, Howard M. Saal, Louise Bordeleau, André Robidoux, A Jakubowska, Steven A. Narod, Tomasz Byrski, Claudine Isaacs, Charmaine Kim-Sing, Jane McLennan, Kenneth Offit, Dominique Stoppa-Lyonnet, Nadine Tung, Robert E. Reilly, Daniel Rayson, Edmond G. Lemire, Marie E. Wood, Jan Klijn, Siranoush Manoukian, Barry P. Rosen, Gad Rennert, Gareth Evans, Susan Armel, Ruth Gershoni-Baruch, Pål Møller, Jan Lubinski, Mark E. Robson, Sonia Nanda, Beth Y. Karlan, Barbara Pasini, Henry T. Lynch, Kevin Sweet, Leigha Senter, Christian F. Singer, Ping Sun, Judy Garber, Lovise Maehle, Josephine Wagner Costalas, Ophira Ginsburg, Dawna Gilchrist, Tomasz Huzarski, Wendy McKinnon, Jeffrey N. Weitzel, William D. Foulkes, Susan L. Neuhausen, Noah D. Kauff, Christine Rappaport, Carey A. Cullinane, David M. Euhus, Tuya Pal, Dana Zakalik, Olufunmilayo I. Olopade, Seema Panchal, Cezary Cybulski, Susan T. Vadaparampil

المصدر: Breast Cancer Research and Treatment. 146:421-427

مصطلحات موضوعية: Adult, Oncology, Heterozygote, Cancer Research, medicine.medical_specialty, Time Factors, Antineoplastic Agents, Hormonal, medicine.medical_treatment, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Article, Contralateral breast cancer, Breast cancer, BRCA2 Mutation, Risk Factors, Internal medicine, Odds Ratio, medicine, Humans, skin and connective tissue diseases, Aged, business.industry, Case-control study, Cancer, Oophorectomy, Neoplasms, Second Primary, Odds ratio, Middle Aged, medicine.disease, Tamoxifen, Case-Control Studies, Mutation, Female, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce7b5df22a2dfdec890e6aaef924df2aTest
https://doi.org/10.1007/s10549-014-3026-3Test

المؤلفون: Gilad D, Evrony, Dwight R, Cordero, Jun, Shen, Jennifer N, Partlow, Timothy W, Yu, Rachel E, Rodin, R Sean, Hill, Michael E, Coulter, Anh-Thu N, Lam, Divya, Jayaraman, Dianne, Gerrelli, Diana G, Diaz, Chloe, Santos, Victoria, Morrison, Antonella, Galli, Ulrich, Tschulena, Stefan, Wiemann, M Jocelyne, Martel, Betty, Spooner, Steven C, Ryu, Princess C, Elhosary, Jillian M, Richardson, Danielle, Tierney, Christopher A, Robinson, Rajni, Chibbar, Dana, Diudea, Rebecca, Folkerth, Sheldon, Wiebe, A James, Barkovich, Ganeshwaran H, Mochida, James, Irvine, Edmond G, Lemire, Patricia, Blakley, Christopher A, Walsh

المصدر: Genome research. 27(8)

مصطلحات موضوعية: DNA Replication, Male, Mice, Knockout, Whole Genome Sequencing, Genetic Linkage, Sequence Analysis, RNA, RNA Splicing, Research, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Nuclear Proteins, Cell Cycle Proteins, Osteochondrodysplasias, Genomic Instability, Pedigree, Mice, Pregnancy, Mutation, Microcephaly, Animals, Humans, Female, Transcriptome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::029011ff8325456af381c7ebd6ca280bTest
https://pubmed.ncbi.nlm.nih.gov/28630177Test