-
1
المؤلفون: Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E. Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J. Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon A. Awandare, Robert J. Morell, Ekaterini Tsilou, Amanda G. Noyes, Laura A. G. Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Suzanne M. Leal, Hela Azaiez, Carmen C. Brewer, Sheikh Riazuddin, Robert B. Hufnagel, Michael Hoa, Wadih M. Zein, J. Karl de Dios, Thomas B. Friedman
المصدر: Clinical Genetics. 103:699-703
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9fa28c57eb07bd63d0020e5fb71c72c4Test
https://doi.org/10.1111/cge.14312Test -
2
المؤلفون: Dong‐chuan Guo, Xueyan Duan, Kathleen Mimnagh, Alana C. Cecchi, Isabella C. Marin, Yang Yu, Walter V. Velasco, Kwanghyuk Lee, Xue Zhu, David R. Murdock, Suzanne M. Leal, Marsha M. Wheeler, Josh Smith, Michael J. Bamshad, Dianna M. Milewicz
المصدر: Clinical Genetics. 103:704-708
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f69f42ee236ce86c0785797e6ed6c9eaTest
https://doi.org/10.1111/cge.14322Test -
3
المؤلفون: Dianna M. Milewicz, Michael J. Bamshad, Jay Shendure, Ellen S. Regalado, Suzanne M. Leal, James P. Evans, Anna L. Mitchell, Dongchuan Guo, Ellen M. Hostetler, Deborah A. Nickerson, Hariyadarshi Pannu, Regie Lyn P. Santos-Cortez, Anthony L. Estrera, Hazim J. Safi, Tracy A. Bensend
المصدر: Clinical Genetics. 89:719-723
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Marfan syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Acute aortic dissections, business.industry, 030204 cardiovascular system & hematology, medicine.disease_cause, medicine.disease, Bioinformatics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Familial Taad, Genetics, medicine, Genetic predisposition, business, Fibrillin, Exome, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e016f90a96b58dd0c88cc9953f9dcc51Test
https://doi.org/10.1111/cge.12702Test -
4
المؤلفون: Saadullah Khan, Stephanie Kim, Adeel Islam, Paula B. Andrade, Suzanne M. Leal, Regie Lyn P. Santos-Cortez, Muhammad Ansar, Wasim Ahmad, Kwanghyuk Lee
المصدر: Clinical Genetics. 82:56-63
مصطلحات موضوعية: Male, Models, Molecular, Chromosomes, Human, Pair 21, Genetic Linkage, media_common.quotation_subject, Nonsense, Genes, Recessive, Consanguinity, Biology, medicine.disease_cause, Article, Exon, Genetic linkage, otorhinolaryngologic diseases, Genetics, medicine, Humans, Missense mutation, Hearing Loss, Gene, Genetics (clinical), media_common, Mutation, Serine Endopeptidases, Membrane Proteins, Exons, Phenotype, Neoplasm Proteins, Pedigree, Protein Structure, Tertiary, Genetic Loci, Case-Control Studies, Ear, Inner, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727d95738cb3ed82ad1d0a1f499b5fd2Test
https://doi.org/10.1111/j.1399-0004.2011.01695.xTest -
5
المؤلفون: Catalina Gonzalez-Quevedo, Yuya Kobayashi, Hooman Allayee, Richard M. Myers, Gustavo Mendoza-Fandiño, Kwanghyuk Lee, S Ben-Dor, Pragna Patel, Jaana Hartiala, JM Gee, Suzanne M. Leal
المصدر: Clinical Genetics. 80:265-272
مصطلحات موضوعية: Male, Genotype, 5' Flanking Region, Genetic Linkage, Sequence analysis, Carnivora, Molecular Sequence Data, 5' flanking region, Chromosome Disorders, Rodentia, Sequence alignment, Biology, Article, Conserved sequence, Genetics, medicine, Animals, Humans, Conserved Sequence, Genetic Association Studies, Genetics (clinical), Anodontia, Genes, Dominant, Chromosomes, Human, Pair 14, Base Sequence, Computational Biology, Sequence Analysis, DNA, medicine.disease, Molar, Pedigree, stomatognathic diseases, Hypodontia, Phenotype, Regulatory sequence, Mutation, Odontogenesis, Female, PAX9 Transcription Factor, Haploinsufficiency, Sequence Alignment, PAX9
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::378218696d035023da79200c6ccf0380Test
https://doi.org/10.1111/j.1399-0004.2010.01529.xTest -
6
المؤلفون: Kwanghyuk Lee, Gutala R, Wasim Ahmad, Muhammad Ansar, Attya Bhatti, McDonald Ml, Suzanne M. Leal, Mubashir Hassan
المصدر: Clinical Genetics. 73:395-398
مصطلحات موضوعية: Male, Genetics, Extramural, Hearing loss, Chromosome Mapping, Chromosome, Genes, Recessive, Locus (genetics), Consanguinity, Biology, Article, Pedigree, Chromosomes, Human, Pair 1, medicine, Humans, Female, Lod Score, medicine.symptom, Hearing Loss, Genetics (clinical), Non syndromic, Sex linkage, Lod score
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::299ddfa3e411fb1d1856be9c2129d03dTest
https://doi.org/10.1111/j.1399-0004.2008.00976.xTest -
7
المؤلفون: Michael Angelo L. Wambangco, Kwanghyuk Lee, Suzanne M. Leal, Regie Lyn P. Santos, Wasim Ahmad, Ghazanfar Ali, Peter John
المصدر: Clinical Genetics. 69:429-433
مصطلحات موضوعية: Genetics, Gene mapping, Haplotype, otorhinolaryngologic diseases, Physical Chromosome Mapping, Locus (genetics), Consanguinity, Biology, Gene, Phenotype, Genetics (clinical), Non syndromic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9c13f40b1f5ae017a3615fcff67cff97Test
https://doi.org/10.1111/j.1399-0004.2006.00611.xTest -
8
المؤلفون: Suzanne M. Leal, S. Irshad, Regie Lyn P. Santos, Dost Muhammad, Kwanghyuk Lee, Wasim Ahmad, Nathan McArthur, Sayedul Haque
المصدر: Clinical Genetics. 68:262-267
مصطلحات موضوعية: Genetics, Mitochondrial DNA, Genetic heterogeneity, Hearing loss, Locus (genetics), Consanguinity, Biology, Gene mapping, Genotype, otorhinolaryngologic diseases, medicine, medicine.symptom, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8f93cae3628015e3e1af8a5153300350Test
https://doi.org/10.1111/j.1399-0004.2005.00492.xTest -
9
المؤلفون: Wasim Ahmad, Muhammad Wajid, Thanh L. Pham, Suzanne M. Leal, J. Hussan, Regie Lyn P. Santos, Ghazanfar Ali
المصدر: Clinical Genetics. 67:61-68
مصطلحات موضوعية: Genetics, education.field_of_study, Population, Haplotype, Consanguinity, Biology, Compound heterozygosity, Genetic variation, Genotype, otorhinolaryngologic diseases, Allele, education, Allele frequency, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7d9d8a6acbacc7f0f6bbdf9a7c36d81aTest
https://doi.org/10.1111/j.1399-0004.2005.00379.xTest -
10
المؤلفون: Wasim Ahmad, Muhammad Ansar, Maria H. Chahrour, Muhammad Rafiq, Muhammad Zeeshan Anwar, Thanh L. Pham, Suzanne M. Leal, M. Amin-ud-din, Sayedul Haque, Kai Yan
المصدر: Clinical Genetics. 66:73-78
مصطلحات موضوعية: Genetics, Nail dysplasia, integumentary system, Consanguineous family, Onycholysis, Locus (genetics), Odds ratio, Biology, medicine.disease, Nail disease, medicine, Anonychia, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::829ff6729af9ac82b79a94919a16925fTest
https://doi.org/10.1111/j.0009-9163.2004.00273.xTest