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المؤلفون: Derek Klarin, Lin Chang, Sarah E. Graham, Brooke N. Wolford, Jonathan L. Eliason, Ben Michael Brumpton, Minerva T. Garcia-Barrio, Kristian Hveem, Michael R. Mathis, Santhi K. Ganesh, Gao Wang, Wei Zhou, Maoxuan Lin, Ida Surakka, Saiju Pyarajan, Bo Yang, Dianna M. Milewicz, Jifeng Zhang, Zhenguo Wang, Michael J. Shea, Dongchuan Guo, Anne Heidi Skogholt, Karen Meekyong Kim, Chad M. Brummett, Bjørn Olav Åsvold, Tori L. Melendez, Kim A. Eagle, Bradley Crone, Poornima Devineni, Philip S. Tsao, Whitney E. Hornsby, Haocheng Lu, Y. Eugene Chen, Scott M. Damrauer, Cristen J. Willer, Tanmoy Roychowdhury, Himanshu J. Patel, Suzanne M. Leal, Anoop K Sendamarai, G. Michael Deeb, VA Million Veteran Program
المصدر: Am J Hum Genet
مصطلحات موضوعية: Michigan, Quantitative Trait Loci, Locus (genetics), Genome-wide association study, Type 2 diabetes, Disease, Bioinformatics, Thoracic aortic aneurysm, complex mixtures, Muscle, Smooth, Vascular, Article, parasitic diseases, Genetics, Medicine, Humans, Genetics (clinical), Aorta, Genetic association, bcl-2-Associated X Protein, Aortic Aneurysm, Thoracic, business.industry, Caspase 3, Genome, Human, Endothelial Cells, medicine.disease, digestive system diseases, Introns, Diabetes Mellitus, Type 2, Gene Expression Regulation, Proto-Oncogene Proteins c-bcl-2, Case-Control Studies, Expression quantitative trait loci, Mutation, business, TCF7L2, Transcription Factor 7-Like 2 Protein, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::774b58c739f2f84555c5180c22d79920Test
https://pubmed.ncbi.nlm.nih.gov/34265237Test -
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المؤلفون: Tiia Reimand, Kirsty McWalter, Eleanor G. Seaby, G. Bradley Schaefer, Marwan Shinawi, Muhammad Arif Nadeem Saqib, Aida Telegrafi, Ana Petracovici, Sander Pajusalu, Jill A. Fahrner, David B. Beck, Chongsheng He, Hannah W. Moore, Suzanne M. Leal, Raymond J. Louie, Siddharth Banka, Renee Bend, Regie Lyn P. Santos-Cortez, Roberto Bonasio, Boris Keren, Marie Christine Nougues, Eloise J. Prijoles, Muhammad Ansar, Katrin Õunap, Roger E. Stevenson, Julien Buratti, Sofia Douzgou, Cyril Mignot, Sivagamy Sithambaram, Trudie Cottrell, Dustin Baldridge, Muhammad Zahid
المصدر: Am J Hum Genet
Beck, D B, Petracovici, A, He, C, Moore, H W, Louie, R J, Ansar, M, Douzgou, S, Sithambaram, S, Cottrell, T, Santos-Cortez, R L P, Prijoles, E J, Bend, R, Keren, B, Mignot, C, Nougues, M-C, Õunap, K, Reimand, T, Pajusalu, S, Saqib, M A N, Buratti, J, Seaby, E G, McWalter, K, Telegrafi, A, Baldridge, D, Shinawi, M, Leal, S M, Schaefer, G B, Stevenson, R E, Banka, S, Bonasio, R & Fahrner, J A 2020, ' Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery : TET3 Deficiency ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.12.007Testمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Protein Conformation, Developmental Disabilities, Embryonic Development, Sequence Homology, Frameshift mutation, Dioxygenases, 03 medical and health sciences, symbols.namesake, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Report, Genetics, Humans, Epigenetics, Amino Acid Sequence, Autistic Disorder, Child, Genetics (clinical), Growth Disorders, 5-Hydroxymethylcytosine, Movement Disorders, biology, Gene Expression Regulation, Developmental, Infant, Middle Aged, Pedigree, DNA Demethylation, 5-Methylcytosine, 030104 developmental biology, Histone, DNA demethylation, chemistry, Child, Preschool, DNA methylation, biology.protein, Mendelian inheritance, symbols, Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b8a0d323dc150b74b9bd22860ebfb32Test
https://pubmed.ncbi.nlm.nih.gov/31928709Test -
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المؤلفون: Kimberly Mae C. Ong, Teresa Luisa I Gloria-Cruz, Wasyl Szeremeta, Jeanne B. Benoit, Jeremy D. Prager, Allen F. Ryan, Petri S. Mattila, Melissa A. Scholes, Patricia J. Yoon, Saira Yousaf, Patrick John Labra, Todd Wine, Tori Bootpetch Roberts, Rehan S. Shaikh, Edward So, Christopher Greenlee, Sven-Olrik Streubel, Stephen P. Cass, Rachelle Marie A. Nonato, Generoso T. Abes, Rhodieleen Anne R. de la Cruz, Karen L. Mohlke, Suzanne M. Leal, Maria Rina T. Reyes-Quintos, Michèle M. Sale, Ivana V. Yang, Deborah A. Nickerson, Jordyn Dinwiddie, Lena Hafrén, Saima Riazuddin, Jonathan Cardwell, Nanette R. Lee, Eva Maria Cutiongco-de la Paz, Kathleen Daly, Charles E. Robertson, Harold S. Pine, Zubair M. Ahmed, Samuel P. Gubbels, Regie Lyn P. Santos-Cortez, Tasnee Chonmaitree, Abner L. Chan, David A. Schwartz, Herman A. Jenkins, Kenny H. Chan, Dylan Ray, Elisabet Einarsdottir, Juha Kere, Sheryl Mae Lagrana-Villagracia, Charlotte M. Chiong, Ayesha Yousaf, Norman R. Friedman, Ma. Leah C. Tantoco, Talitha Karisse L. Yarza, Michael J. Bamshad, Melquiadesa Pedro, Erasmo Gonzalo D V Llanes, Matthew J. Steritz, Amanda G. Ruiz, Arnaud P. J. Giese, Daniel N. Frank
المساهمون: Päivi Marjaana Saavalainen / Principal Investigator, Research Programme for Molecular Neurology, Research Programs Unit, University of Helsinki, Juha Kere / Principal Investigator, Korva-, nenä- ja kurkkutautien klinikka, Clinicum, HUS Head and Neck Center
المصدر: American journal of human genetics. 103(5)
مصطلحات موضوعية: 0301 basic medicine, Male, LEWIS, BIOLOGY, Ear, Middle, Biology, medicine.disease_cause, Article, Haemophilus influenzae, Cell Line, 03 medical and health sciences, symbols.namesake, Mice, RARE, Genetic linkage, REVEALS, Chlorocebus aethiops, Genetics, medicine, Animals, Humans, Exome, 3125 Otorhinolaryngology, ophthalmology, Microbiome, Genetics (clinical), Sanger sequencing, GENE-EXPRESSION DATA, Genetic heterogeneity, OSTM1, Microbiota, COMMON VARIANTS, Genetic Variation, Transmission disequilibrium test, Fucosyltransferases, READ ALIGNMENT, 3. Good health, Pedigree, Mice, Inbred C57BL, Otitis Media, 030104 developmental biology, Otitis, HEK293 Cells, COS Cells, symbols, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc0ae5dcb12340c4ac56fe9788d70ca5Test
https://pubmed.ncbi.nlm.nih.gov/30401457Test -
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المؤلفون: Daniel B. Rifkin, Suzanne M. Leal, Dianna M. Milewicz, Marvin R. Natowicz, Siddharth K. Prakash, Kwanghyuk Lee, Ellen S. Regalado, Dongchuan Guo, Christina Rigelsky, Amélie Pinard, Micheala A. Aldred, Michael J. Bamshad, Jiyuan Chen, Deborah A. Nickerson, Lior Zilberberg, Ellen M. Hostetler, Stephanie E. Wallace
المصدر: American journal of human genetics. 102(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Blood Pressure, Compound heterozygosity, Short stature, 03 medical and health sciences, Mice, medicine.artery, Report, Genetics, medicine, Thoracic aorta, Animals, Humans, Amelogenesis imperfecta, Genetic Predisposition to Disease, Gene, Genetics (clinical), Exome sequencing, Aged, 80 and over, Aorta, Aortic Aneurysm, Thoracic, business.industry, Abdominal aorta, Homozygote, Middle Aged, medicine.disease, Pedigree, Aortic Dissection, 030104 developmental biology, Latent TGF-beta Binding Proteins, Mutation, cardiovascular system, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b2f8f8c9389cd2807525247c8e52e5Test
https://pubmed.ncbi.nlm.nih.gov/29625025Test -
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المؤلفون: Gao Wang, Linhai Zhao, Di Zhang, Suzanne M. Leal, Zongxiao He, Biao Li, Dajiang J. Liu
المصدر: American journal of human genetics. 101(1)
مصطلحات موضوعية: 0301 basic medicine, Computer science, Computational biology, 030105 genetics & heredity, Quantitative trait locus, Genome, 03 medical and health sciences, Report, Genetics, Humans, Exome, Genetics (clinical), Exome sequencing, Genetic association, Principal Component Analysis, Massive parallel sequencing, Waist-Hip Ratio, Genetic Variation, Sequence Analysis, DNA, 030104 developmental biology, Principal component analysis, Databases, Nucleic Acid, Imputation (genetics), Software, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5ff0a69e2b08cc04a69ff0c7cf98313Test
https://pubmed.ncbi.nlm.nih.gov/28669402Test -
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المؤلفون: Paul L. Auer, Gao Wang, Gonçalo R. Abecasis, Michael J. Bamshad, Hyun Min Kang, Suzanne M. Leal, Stephen S. Rich, David Altshuler, Deborah A. Nickerson, Alexander P. Reiner, Russell P. Tracy
المصدر: American journal of human genetics. 99(4)
مصطلحات موضوعية: 0301 basic medicine, Male, Quality Control, Computer science, Population, Guidelines as Topic, 030105 genetics & heredity, Article, 03 medical and health sciences, Genetics, Humans, Exome, education, Genetics (clinical), Exome sequencing, Genetic Association Studies, education.field_of_study, Genome, Human, Clinical study design, Genetic Variation, Reproducibility of Results, Sequence Analysis, DNA, Precision medicine, Data science, Human genetics, United States, 030104 developmental biology, Scale (social sciences), Human genome, Female, National Heart, Lung, and Blood Institute (U.S.)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f19cf92aa92acfacb035d924d9cda0a5Test
https://pubmed.ncbi.nlm.nih.gov/27666372Test -
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المؤلفون: Leslie A. Lange, Youna Hu, He Zhang, Chenyi Xue, Ellen M. Schmidt, Zheng-Zheng Tang, Chris Bizon, Ethan M. Lange, Joshua D. Smith, Emily H. Turner, Goo Jun, Hyun Min Kang, Gina Peloso, Paul Auer, Kuo-ping Li, Jason Flannick, Ji Zhang, Christian Fuchsberger, Kyle Gaulton, Cecilia Lindgren, Adam Locke, Alisa Manning, Xueling Sim, Manuel A. Rivas, Oddgeir L. Holmen, Omri Gottesman, Yingchang Lu, Douglas Ruderfer, Eli A. Stahl, Qing Duan, Yun Li, Peter Durda, Shuo Jiao, Aaron Isaacs, Albert Hofman, Joshua C. Bis, Adolfo Correa, Michael E. Griswold, Johanna Jakobsdottir, Albert V. Smith, Pamela J. Schreiner, Mary F. Feitosa, Qunyuan Zhang, Jennifer E. Huffman, Jacy Crosby, Christina L. Wassel, Ron Do, Nora Franceschini, Lisa W. Martin, Jennifer G. Robinson, Themistocles L. Assimes, David R. Crosslin, Elisabeth A. Rosenthal, Michael Tsai, Mark J. Rieder, Deborah N. Farlow, Aaron R. Folsom, Thomas Lumley, Ervin R. Fox, Christopher S. Carlson, Ulrike Peters, Rebecca D. Jackson, Cornelia M. van Duijn, André G. Uitterlinden, Daniel Levy, Jerome I. Rotter, Herman A. Taylor, Vilmundur Gudnason, David S. Siscovick, Myriam Fornage, Ingrid B. Borecki, Caroline Hayward, Igor Rudan, Y. Eugene Chen, Erwin P. Bottinger, Ruth J.F. Loos, Pål Sætrom, Kristian Hveem, Michael Boehnke, Leif Groop, Mark McCarthy, Thomas Meitinger, Christie M. Ballantyne, Stacey B. Gabriel, Christopher J. O’Donnell, Wendy S. Post, Kari E. North, Alexander P. Reiner, Eric Boerwinkle, Bruce M. Psaty, David Altshuler, Sekar Kathiresan, Dan-Yu Lin, Gail P. Jarvik, L. Adrienne Cupples, Charles Kooperberg, James G. Wilson, Deborah A. Nickerson, Goncalo R. Abecasis, Stephen S. Rich, Russell P. Tracy, Cristen J. Willer, David M. Altshuler, Gonçalo R. Abecasis, Hooman Allayee, Sharon Cresci, Mark J. Daly, Paul I.W. de Bakker, Mark A. DePristo, Peter Donnelly, Tim Fennell, Kiran Garimella, Stanley L. Hazen, Daniel M. Jordan, Adam Kiezun, Guillaume Lettre, Bingshan Li, Mingyao Li, Christopher H. Newton-Cheh, Sandosh Padmanabhan, Sara Pulit, Daniel J. Rader, David Reich, Muredach P. Reilly, Steve Schwartz, Laura Scott, John A. Spertus, Nathaniel O. Stitziel, Nina Stoletzki, Shamil R. Sunyaev, Benjamin F. Voight, Ermeg Akylbekova, Larry D. Atwood, Maja Barbalic, R. Graham Barr, Emelia J. Benjamin, Joshua Bis, Donald W. Bowden, Jennifer Brody, Matthew Budoff, Greg Burke, Sarah Buxbaum, Jeff Carr, Donna T. Chen, Ida Y. Chen, Wei-Min Chen, Pat Concannon, Ralph D’Agostino, Anita L. DeStefano, Albert Dreisbach, Josée Dupuis, J. Peter Durda, Jaclyn Ellis, Caroline S. Fox, Ervin Fox, Vincent Funari, Santhi K. Ganesh, Julius Gardin, David Goff, Ora Gordon, Wayne Grody, Myron Gross, Xiuqing Guo, Ira M. Hall, Nancy L. Heard-Costa, Susan R. Heckbert, Nicholas Heintz, David M. Herrington, DeMarc Hickson, Jie Huang, Shih-Jen Hwang, David R. Jacobs, Nancy S. Jenny, Andrew D. Johnson, Craig W. Johnson, Steven Kawut, Richard Kronmal, Raluca Kurz, Martin G. Larson, Mark Lawson, Cora E. Lewis, Dalin Li, Honghuang Lin, Chunyu Liu, Jiankang Liu, Kiang Liu, Xiaoming Liu, Yongmei Liu, William T. Longstreth, Cay Loria, Kathryn Lunetta, Aaron J. Mackey, Rachel Mackey, Ani Manichaikul, Taylor Maxwell, Barbara McKnight, James B. Meigs, Alanna C. Morrison, Solomon K. Musani, Josyf C. Mychaleckyj, Jennifer A. Nettleton, Kari North, Daniel O’Leary, Frank Ong, Walter Palmas, James S. Pankow, Nathan D. Pankratz, Shom Paul, Marco Perez, Sharina D. Person, Joseph Polak, Aaron R. Quinlan, Leslie J. Raffel, Vasan S. Ramachandran, Kenneth Rice, Jill P. Sanders, Pamela Schreiner, Sudha Seshadri, Steve Shea, Stephen Sidney, Kevin Silverstein, Nicholas L. Smith, Nona Sotoodehnia, Asoke Srinivasan, Kent Taylor, Fridtjof Thomas, Michael Y. Tsai, Kelly A. Volcik, Chrstina L. Wassel, Karol Watson, Gina Wei, Wendy White, Kerri L. Wiggins, Jemma B. Wilk, O. Dale Williams, Gregory Wilson, Phillip Wolf, Neil A. Zakai, John Hardy, James F. Meschia, Michael Nalls, Andrew Singleton, Brad Worrall, Michael J. Bamshad, Kathleen C. Barnes, Ibrahim Abdulhamid, Frank Accurso, Ran Anbar, Terri Beaty, Abigail Bigham, Phillip Black, Eugene Bleecker, Kati Buckingham, Anne Marie Cairns, Daniel Caplan, Barbara Chatfield, Aaron Chidekel, Michael Cho, David C. Christiani, James D. Crapo, Julia Crouch, Denise Daley, Anthony Dang, Hong Dang, Alicia De Paula, Joan DeCelie-Germana, Allen DozorMitch Drumm, Maynard Dyson, Julia Emerson, Mary J. Emond, Thomas Ferkol, Robert Fink, Cassandra Foster, Deborah Froh, Li Gao, William Gershan, Ronald L. Gibson, Elizabeth Godwin, Magdalen Gondor, Hector Gutierrez, Nadia N. Hansel, Paul M. Hassoun, Peter Hiatt, John E. Hokanson, Michelle Howenstine, Laura K. Hummer, Jamshed Kanga, Yoonhee Kim, Michael R. Knowles, Michael Konstan, Thomas Lahiri, Nan Laird, Christoph Lange, Lin Lin, Xihong Lin, Tin L. Louie, David Lynch, Barry Make, Thomas R. Martin, Steve C. Mathai, Rasika A. Mathias, John McNamara, Sharon McNamara, Deborah Meyers, Susan Millard, Peter Mogayzel, Richard Moss, Tanda Murray, Dennis Nielson, Blakeslee Noyes, Wanda O’Neal, David Orenstein, Brian O’Sullivan, Rhonda Pace, Peter Pare, H. Worth Parker, Mary Ann Passero, Elizabeth Perkett, Adrienne Prestridge, Nicholas M. Rafaels, Bonnie Ramsey, Elizabeth Regan, Clement Ren, George Retsch-Bogart, Michael Rock, Antony Rosen, Margaret Rosenfeld, Ingo Ruczinski, Andrew Sanford, David Schaeffer, Cindy Sell, Daniel Sheehan, Edwin K. Silverman, Don Sin, Terry Spencer, Jackie Stonebraker, Holly K. Tabor, Laurie Varlotta, Candelaria I. Vergara, Robert Weiss, Fred Wigley, Robert A. Wise, Fred A. Wright, Mark M. Wurfel, Robert Zanni, Fei Zou, Phil Green, Jay Shendure, Joshua M. Akey, Carlos D. Bustamante, Evan E. Eichler, P. Keolu Fox, Wenqing Fu, Adam Gordon, Simon Gravel, Jill M. Johnsen, Mengyuan Kan, Eimear E. Kenny, Jeffrey M. Kidd, Fremiet Lara-Garduno, Suzanne M. Leal, Dajiang J. Liu, Sean McGee, Timothy D. O’Connor, Bryan Paeper, Peggy D. Robertson, Jeffrey C. Staples, Jacob A. Tennessen, Gao Wang, Qian Yi, Rebecca Jackson, Garnet Anderson, Hoda Anton-Culver, Paul L. Auer, Shirley Beresford, Henry Black, Robert Brunner, Robert Brzyski, Dale Burwen, Bette Caan, Cara L. Carty, Rowan Chlebowski, Steven Cummings, J. David Curb, Charles B. Eaton, Leslie Ford, Stephanie M. Fullerton, Margery Gass, Nancy Geller, Gerardo Heiss, Barbara V. Howard, Li Hsu, Carolyn M. Hutter, John Ioannidis, Karen C. Johnson, Lewis Kuller, Andrea LaCroix, Kamakshi Lakshminarayan, Dorothy Lane, Norman Lasser, Erin LeBlanc, Kuo-Ping Li, Marian Limacher, Benjamin A. Logsdon, Shari Ludlam, JoAnn E. Manson, Karen Margolis, Lisa Martin, Joan McGowan, Keri L. Monda, Jane Morley Kotchen, Lauren Nathan, Judith Ockene, Mary Jo O’Sullivan, Lawrence S. Phillips, Ross L. Prentice, John Robbins, Jacques E. Rossouw, Haleh Sangi-Haghpeykar, Gloria E. Sarto, Sally Shumaker, Michael S. Simon, Marcia L. Stefanick, Evan Stein, Hua Tang, Kira C. Taylor, Cynthia A. Thomson, Timothy A. Thornton, Linda Van Horn, Mara Vitolins, Jean Wactawski-Wende, Robert Wallace, Sylvia Wassertheil-Smoller, Donglin Zeng, Deborah Applebaum-Bowden, Michael Feolo, Weiniu Gan, Dina N. Paltoo, Phyliss Sholinsky, Anne Sturcke
المساهمون: Epidemiology, Internal Medicine
المصدر: American Journal of Human Genetics, 94(2), 233-245. Cell Press
American Journal of Human Genetics, 94(2), 233-45. Cell Pressمصطلحات موضوعية: Male, Genome-wide association study, 030204 cardiovascular system & hematology, Cohort Studies, 0302 clinical medicine, Gene Frequency, Receptors, Genotype, Dyslipidemias/blood, Receptors, LDL/genetics, Genetics(clinical), Exome, Genetics (clinical), Exome sequencing, Genetics, 0303 health sciences, Serine Endopeptidases, Single Nucleotide, Middle Aged, 3. Good health, Cholesterol, Phenotype, Genetic Code, Cholesterol, LDL/genetics, Female, lipids (amino acids, peptides, and proteins), Proprotein Convertases, Proprotein Convertase 9, Sequence Analysis, Adult, Apolipoproteins E/blood, LDL/genetics, Serine Endopeptidases/genetics, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Apolipoproteins E, SDG 3 - Good Health and Well-being, Humans, Polymorphism, Allele frequency, 030304 developmental biology, Genetic association, Aged, Dyslipidemias, PCSK9, DNA, Cholesterol, LDL, Lipase, Sequence Analysis, DNA, Receptors, LDL, Lipase/genetics, Proprotein Convertases/genetics, Follow-Up Studies, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efdd129ad564b9cf981f8d6671b91474Test
http://ora.ox.ac.uk/objects/uuid:53bdf012-3e48-4692-835f-d0033e584ec3Test -
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المؤلفون: Andrew J. Griffith, Asma A. Khan, Jay Shendure, Atteeq U. Rehman, Wasim Ahmad, Saima Riazuddin, Neil Billington, Kwanghyuk Lee, Thomas B. Friedman, Robert J. Morell, Regie Lyn P. Santos-Cortez, Taku Ito, Rana A. Ali, Meghan C. Drummond, Muhammad Asim Raza Basra, Shaheen N. Khan, Michael J. Bamshad, Muhammad Ayub, Syed Irfan Raza, Naveed Wasif, Sheikh Riazuddin, Deborah A. Nickerson, Suzanne M. Leal, Penelope L. Friedman
المصدر: American journal of human genetics. 94(1)
مصطلحات موضوعية: Male, Deafness, Epilepsy, Consanguinity, 0302 clinical medicine, Genotype-phenotype distinction, Genetics(clinical), Exome, Pakistan, Nonsyndromic deafness, Genetics (clinical), Genetics, 0303 health sciences, GTPase-Activating Proteins, Homozygote, Exons, 3. Good health, Pedigree, Phenotype, Female, medicine.symptom, Heterozygote, Hearing loss, Molecular Sequence Data, Genes, Recessive, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, DOOR syndrome, Report, medicine, otorhinolaryngologic diseases, Humans, Amino Acid Sequence, RNA, Messenger, Allele, Alleles, 030304 developmental biology, Genetic heterogeneity, Membrane Proteins, Sequence Analysis, DNA, medicine.disease, Genetic Loci, Mutation, Carrier Proteins, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f6252d8af1f1b146eb6e0a251d9c911Test
https://pubmed.ncbi.nlm.nih.gov/24387994Test -
9
المؤلفون: Jill A. Rosenfeld, Kay K. Win, Jeffery Kerr, Patricia I. Bader, Ian M. Campbell, Robin P. Goin-Kochel, Lisa G. Shaffer, Simeon A. Boyadjiev, Lisa Omo-Griffith, M. Williams, Heather P. Crawford, Gladys Zapata, Mirjana Maletic-Savatic, Gao Wang, Patricia Hixson, Anna Illner, Ankita Patel, Nirupama S. Madduri, Reed A. Omary, Pawel Stankiewicz, James R. Lupski, LaDonna Immken, Gayle Simpson, Xueqing Wang, Seema R. Lalani, Jill V. Hunter, Cameron P. Simmons, Erica E. Davis, Melissa B. Ramocki, Neil A. Hanchard, Wojciech Wiszniewski, Carlos A. Bacino, John W. Belmont, Marija Stosic, Lorraine Potocki, Sau Wai Cheung, Qi Tian, Mahshid S. Azamian, Sumit Pruthi, Arthur L. Beaudet, Apiwat Mutirangura, Chiea Chuen Khor, Thomas M. Morgan, Matthew E. Hurles, Pattamawadee Yanatatsaneejit, Sarah J. Dunstan, Suzanne M. Leal, Gunter Scharer, Martin L. Hibberd, Monica J. Justice, Audrey R. Ester, Penelope E. Bonnen, Adiaha I.A. Franklin, Regie Lyn P. Santos-Cortez, Patricia P. Hernandez, Chad A. Shaw, Zili D. Chu, Anna Eifert, Jason R. Willer, Thomas E. Gallagher, Violet Gelowani, Nicholas Katsanis, Nguyen Van Vinh Chau, Muhammad E Haque, Michele K. York, Aye Thida
المصدر: Europe PubMed Central
مصطلحات موضوعية: Male, Tetraspanins, Molecular Sequence Data, Population, Biology, Bioinformatics, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Asian People, Leukoencephalopathies, Genetics, Humans, Genetic Predisposition to Disease, Language Development Disorders, Genetics(clinical), Age of Onset, Allele, Child, education, Allele frequency, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Sequence Deletion, 030304 developmental biology, 0303 health sciences, education.field_of_study, Base Sequence, Haplotype, Brain, Correction, Aging, Premature, Exons, Sequence Analysis, DNA, Magnetic Resonance Imaging, Hyperintensity, Pedigree, Child, Preschool, Chromosomes, Human, Pair 2, Female, Age of onset, 030217 neurology & neurosurgery, Minigene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42ed4482816e300d9f5321fb4577ac8cTest
http://ora.ox.ac.uk/objects/uuidTest: -
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المؤلفون: Hazim J. Safi, Anthony L. Estrera, Molly S. Bray, John W. Belmont, Ralph J. Johnson, Dianna M. Milewicz, Siddharth K. Prakash, Joseph S. Coselli, Hossein Golabbakhsh, Ellen S. Regalado, Ludivine Russell, Suzanne M. Leal, Dongchuan Guo, Scott A. LeMaire
المصدر: American journal of human genetics. 87(6)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Vascular smooth muscle, Population, Gene Dosage, 030204 cardiovascular system & hematology, Biology, Bioinformatics, Gene dosage, Muscle, Smooth, Vascular, Contractility, 03 medical and health sciences, Aortic aneurysm, 0302 clinical medicine, Genetics, medicine, Cell Adhesion, Humans, Genetics(clinical), Copy-number variation, education, Cell adhesion, Gene, Genetics (clinical), 030304 developmental biology, Aged, Aged, 80 and over, 0303 health sciences, education.field_of_study, Aortic Aneurysm, Thoracic, Vascular disease, Anatomy, Middle Aged, medicine.disease, Human genetics, Gene expression profiling, Female, Erratum, Muscle Contraction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b88fbc6032b756e7804a06c3e73db7e4Test
https://pubmed.ncbi.nlm.nih.gov/21505203Test