المؤلفون: Isabelle Schrauwen, Amama Ghaffar, Thashi Bharadwaj, Khadim Shah, Sakina Rehman, Anushree Acharya, Khurram Liaqat, Nicole S Lin, Jenna L Everard, Anwar Khan, Zubair M Ahmed, Wasim Ahmad, Saima Riazuddin, Suzanne M Leal

المصدر: Human molecular genetics.

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::735da1bb618530acd3401657135b20cfTest
https://pubmed.ncbi.nlm.nih.gov/36355422Test

المؤلفون: Wasim Ahmad, Joshua D. Smith, Jay Shendure, Regie Lyn P. Santos-Cortez, Saima Riazuddin, Deborah A. Nickerson, Kwanghyuk Lee, Muhammad Ansar, Muhammad Amin-ud-din, Arnaud P. J. Giese, Suzanne M. Leal, Abdul Aziz, Raja Hussain Ali, Kira Rehn, Xin Wang, Ilene Chiu, Michael J. Bamshad, Zubair M. Ahmed

المصدر: Human Molecular Genetics. 23:3289-3298

مصطلحات موضوعية: Male, Cytoplasm, Hearing loss, Nonsense mutation, Adenylate kinase, Mice, Chlorocebus aethiops, Hair Cells, Auditory, Cyclic AMP, otorhinolaryngologic diseases, Genetics, medicine, Animals, Humans, Inner ear, Hearing Loss, Molecular Biology, Zebrafish, Genetics (clinical), Cochlea, Stereocilium, biology, Labyrinth Supporting Cells, Articles, General Medicine, biology.organism_classification, Cell biology, medicine.anatomical_structure, Codon, Nonsense, Ear, Inner, COS Cells, Female, sense organs, Hair cell, medicine.symptom, Adenylyl Cyclases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5182ed67b00888e7f565bfdabf437baeTest
https://doi.org/10.1093/hmg/ddu042Test

المؤلفون: Judith A. Goodship, Peter White, John W. Belmont, Kristine L. Bucasas, Kelsey Lecerf, Gloria Zender, William J. Dreyer, Lalita Wadhwa, Dhaval R. Parekh, Mojisola Popoola, Shoumo Bhattacharya, Dieter Furthner, M. Regina Lantin-Hermoso, Suzanne M. Leal, James R. Lupski, Xueqing Wang, Charles D. Fraser, Shaine A. Morris, Seema R. Lalani, Kim L. McBride, Gladys Zapata, Patricia P. Hernandez, Lisa C.A. D'Alessandro, Susan D. Fernbach, Elena C. Ocampo, Shanker Swaminathan, Henri Justino, Bernard Keavney, Nancy A. Ayres, Emily J. Lawrence, Vidu Garg, Jessica Bowman, Don Corsmeier, Jeffrey A. Towbin, Mark B. Lewin, Douglas Moodie, Sara Fitzgerald-Butt, Frances A. Bu'Lock, Mahshid S. Azamian, Hugh D. Allen, Daniel J. Penny, Alexia B. Santos, Neil A. Hanchard, Wayne J. Franklin, Susan W. Denfield, Aamir Jeewa, J. David Brook, Heather J. Cordell

المصدر: Human molecular genetics. 25(11)

مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Male, Genotype, Heart Ventricles, Chromosomes, Human, Pair 20, Locus (genetics), Genome-wide association study, Single-nucleotide polymorphism, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Genetics, SNP, Humans, Genetic Predisposition to Disease, Association mapping, Molecular Biology, Genetics (clinical), Association Studies Articles, Chromosome Mapping, General Medicine, Heritability, 030104 developmental biology, Female, Chromosome 20, Imputation (genetics), Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc81bcd3a3916b549bc2844fcb7f3631Test
https://pubmed.ncbi.nlm.nih.gov/26965164Test

المؤلفون: Ayse E. Erson, Theru A. Sivakumaran, Marci M. Lesperance, Guy Van Camp, Purnima Kurnool, Margit Burmeister, Andrew T. DeWan, David J. Brown, Steven J. H. Bom, Irina N. Bespalova, Suzanne M. Leal, Kim Cryns, Cor W. R. J. Cremers, Kris Flothmann, Henricus P. M. Kunst

المصدر: Scopus-Elsevier
Human Molecular Genetics, 10, 2501-8
Human Molecular Genetics, 10, 22, pp. 2501-8
Human molecular genetics

مصطلحات موضوعية: Male, Wolfram syndrome, Hearing loss, Hearing Loss, Sensorineural, Low Frequency Hearing Loss, DNA Mutational Analysis, Mutation, Missense, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Gene Frequency, Genetics, medicine, otorhinolaryngologic diseases, Gehoor en communicatie, Missense mutation, Humans, Allele, Molecular Biology, Genetics (clinical), Alleles, Polymorphism, Single-Stranded Conformational, Phenocopy, Family Health, Mutation, Base Sequence, Membrane Proteins, Auditory Threshold, General Medicine, DNA, medicine.disease, Pedigree, Haplotypes, Hearing and Communication Disorders, Sensorineural hearing loss, Female, medicine.symptom, Chromosomes, Human, Pair 4, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e71d593fe4edba5a6215b30d24504ceTest
https://pubmed.ncbi.nlm.nih.gov/11709537Test