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المؤلفون: Diana M. Cornejo-Sanchez, Guangyou Li, Tabassum Fabiha, Ran Wang, Anushree Acharya, Jenna L. Everard, Magda K. Kadlubowska, Yin Huang, Isabelle Schrauwen, Gao T. Wang, Andrew T. DeWan, Suzanne M. Leal
المصدر: European Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c09b4a3330d2a8b20a52fb0feaf3f499Test
https://doi.org/10.1038/s41431-023-01302-2Test -
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المؤلفون: Andrew J. Griffith, Risa Tona, Liz M Nouel-Saied, Parna Chattaraj, Robert J. Morell, Thomas B. Friedman, Suzanne M. Leal, Rabia Faridi, Rizwan Yousaf, Anushree Acharya, Adebolajo A. Adeyemo, Thashi Bharadwaj, Samuel Okorie, Isabelle Roux, Isabelle Schrauwen
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Adult, Male, Heterozygote, MYO15A, Adolescent, MYO7A, Hearing loss, Hearing Loss, Sensorineural, Usher syndrome, Population, Nigeria, Biology, Compound heterozygosity, Article, Genetic Heterogeneity, Gene Frequency, Genetics research, otorhinolaryngologic diseases, Genetics, medicine, Humans, Child, Indigenous Peoples, education, Exome, Genetics (clinical), education.field_of_study, Genetic heterogeneity, medicine.disease, Genetic Loci, Child, Preschool, Female, medicine.symptom, Medical genomics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff0f5029ba3f885e1fe0b276d60c2e60Test
https://doi.org/10.1038/s41431-021-00984-wTest -
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المؤلفون: Richard Mayeux, Gao T Wang, Badri N. Vardarajan, Sandra Rodriguez, Alison Goate, Suzanne M. Leal, Alan E. Renton, Zhihui Zhang, Linhai Zhao
المصدر: European Journal of Human Genetics. 28:1734-1742
مصطلحات موضوعية: Genetics, Linkage (software), Apolipoprotein E, 0303 health sciences, education.field_of_study, 030305 genetics & heredity, Population, Nonparametric statistics, Pedigree chart, Biology, Quantitative trait locus, medicine.disease, 03 medical and health sciences, Locus heterogeneity, medicine, Allele, education, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b9b0267b4ebc2514bf2654113ddc6450Test
https://doi.org/10.1038/s41431-020-0703-zTest -
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المؤلفون: Isabelle Schrauwen, Suzanne M. Leal, Regie Lyn P. Santos-Cortez, Laurent C. Francioli, Zhihui Zhang, Imen Chakchouk, Di Zhang
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Population, Genes, Recessive, Deafness, Biology, Article, Gene Frequency, Genetic variation, otorhinolaryngologic diseases, Genetics, Humans, Genetic Predisposition to Disease, Allele, Hearing Loss, education, Gene, Allele frequency, Alleles, Genetic Association Studies, Genetics (clinical), education.field_of_study, Genetic heterogeneity, Chromosome Mapping, Genetic Variation, Ashkenazi jews, Etiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b2921054d365848e280f4bc19e5dceTest
https://doi.org/10.1038/s41431-019-0417-2Test -
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المؤلفون: Di Zhang, Gao Wang, Suzanne M. Leal, Hang Dai, Biao Li
المصدر: European Journal of Human Genetics. 23:1739-1743
مصطلحات موضوعية: Genetics, Genetic Linkage, Sequence analysis, Haplotype, Short Report, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Biology, Penetrance, Genome, symbols.namesake, Haplotypes, Genetic linkage, Mendelian inheritance, symbols, Humans, Hearing Loss, Software, Genetics (clinical), Exome sequencing, Sequence (medicine)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8316cc3cce504ef2aff280d112fa029Test
https://doi.org/10.1038/ejhg.2015.64Test -
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المؤلفون: John T. Hinnant, Deborah A. Nickerson, Abid Jan, A. Eliot Shearer, Zubair M. Ahmed, Joshua D. Smith, Ellen Wilch, Gao Wang, Robert J. Morell, Mohsin Shahzad, Meghan C. Drummond, Abdul Aziz, Saima Riazuddin, Richard J.H. Smith, Wasim Ahmad, Khitab Gul, Shaheen N. Khan, Sheikh Riazuddin, Regie Lyn P. Santos-Cortez, Jay Shendure, Rachel Fisher, Michael J. Bamshad, Kwanghyuk Lee, Karen H. Friderici, Muhammad Ansar, Atteeq U. Rehman, Thomas B. Friedman, Suzanne M. Leal, Xin Wang
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Male, Genotype, Genetic Linkage, Genes, Recessive, Pedigree chart, Biology, Article, Connexins, White People, Consanguinity, Genetic Heterogeneity, symbols.namesake, Asian People, Genetic linkage, Locus heterogeneity, Genetics, medicine, Humans, Genetic Predisposition to Disease, Hearing Loss, Genetics (clinical), Exome sequencing, Genome, Human, Hepatocyte Growth Factor, Genetic heterogeneity, Calcium-Binding Proteins, Homozygote, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Membrane Transport Proteins, Disease gene identification, medicine.disease, Pedigree, Connexin 26, Phenotype, Genetic Loci, Sulfate Transporters, Mutation, Mendelian inheritance, symbols, Female, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0257d00407632ff8cb30824450f2b641Test
https://doi.org/10.1038/ejhg.2014.266Test -
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المؤلفون: Suzanne M. Leal, Paul L. Auer
المصدر: European Journal of Human Genetics. 25:395-396
مصطلحات موضوعية: 0301 basic medicine, Genetics, education.field_of_study, Letter, Whole Genome Sequencing, Population, Computational biology, Population based, 030105 genetics & heredity, Biology, Genome, 03 medical and health sciences, 030104 developmental biology, Humans, Exome, 1000 Genomes Project, education, Genetics (clinical), Exome sequencing, Genome-Wide Association Study, Genetic association
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d0bfd5a893fc5bb8abd6631b4540c7Test
https://doi.org/10.1038/ejhg.2016.206Test -
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المؤلفون: Suzanne M. Leal, Dajiang J. Liu
المصدر: European Journal of Human Genetics. 20:449-456
مصطلحات موضوعية: Genetics, Likelihood Functions, education.field_of_study, Genotype, Clinical study design, Population, Sampling (statistics), Genome-wide association study, Computational biology, Biology, Phenotype, Article, Data sequences, Humans, Computer Simulation, Spurious relationship, education, Genetics (clinical), Genome-Wide Association Study, Genetic association
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c76d8c9591822f7d821448847a84fe64Test
https://doi.org/10.1038/ejhg.2011.211Test -
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المؤلفون: Andres Menesses-Diaz, Sara Fitzgerald-Butt, Daniel Koehler, John W. Belmont, Gloria Zender, Kwanghyuk Lee, Jeffrey A. Towbin, Susan D. Fernbach, Suzanne M. Leal, Kim L. McBride
المصدر: European Journal of Human Genetics. 17:811-819
مصطلحات موضوعية: Male, Aortic valve, medicine.medical_specialty, Genotype, Genetic Linkage, Coarctation of the aorta, Ventricular Outflow Obstruction, Article, Aortic Coarctation, Hypoplastic left heart syndrome, Genetic linkage, Internal medicine, Hypoplastic Left Heart Syndrome, Genetics, medicine, Humans, Ventricular outflow tract, Genetic Predisposition to Disease, Genetics (clinical), business.industry, Cytogenetics, Aortic Valve Stenosis, Anatomy, medicine.disease, medicine.anatomical_structure, Aortic valve stenosis, Cardiology, Female, business, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28dfd2c4e4486bc4df3d8e5187c78fc2Test
https://doi.org/10.1038/ejhg.2008.255Test -
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المؤلفون: Muhammad Wajid, Thanh L. Pham, Sayedul Haque, Kai Yan, Wasim Ahmad, Muhammad Ansar, Amir Ali Abbasi, Suzanne M. Leal
المصدر: European Journal of Human Genetics. 11:812-815
مصطلحات موضوعية: Genetic Markers, Male, Genetic Linkage, Hearing loss, Hearing Loss, Sensorineural, Genes, Recessive, Locus (genetics), Biology, Article, Genetic determinism, Genetic linkage, otorhinolaryngologic diseases, Genetics, medicine, Humans, Pakistan, Genetics (clinical), Homozygote, Haplotype, Chromosome Mapping, Pedigree, Haplotypes, Prelingual sensorineural hearing impairment, Genetic marker, Microsatellite, Female, Lod Score, medicine.symptom, Chromosomes, Human, Pair 7
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5670f9dbfd9a9cc32d37caad9c889142Test
https://doi.org/10.1038/sj.ejhg.5201041Test