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Expert Review of Molecular Diagnostics|April 19, 2002
Molecular diagnosis of facioscapulohumeral muscular dystrophyMeena Upadhyaya, David N CooperAnnual Review of Genomics and Human Genetics|May 21, 2009
Chronic pancreatitis: genetics and pathogenesisJian-Min Chen, Claude FérecClinics and Research in Hepatology and Gastroenterology|July 4, 2012
Genetics and pathogenesis of chronic pancreatitis: the 2012 updateJian-Min Chen, Claude FérecHuan Jing Ke Xue= Huanjing Kexue|April 4, 2012
[Determination of low concentration VOCs in air by a newly designed needle trap device]Xiang Li, Jian-Min ChenHuman Genomics|January 27, 2018
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephalyYe Wang, Xueli Wu, Liu Du, et al.American Journal of Human Genetics|August 22, 2025
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challengesYuan-Chen Wang, Emmanuelle Masson, Qi-Wen Wang, et al.Human Genetics|September 18, 2021
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletionsHildegard Kehrer-Sawatzki, David N CooperHuman Genetics|December 20, 2021
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variantsHildegard Kehrer-Sawatzki, David N CooperHuman Genomics|February 8, 2011
Exploring the potential relevance of human-specific genes to complex diseaseDavid N Cooper, Hildegard Kehrer-SawatzkiHuman Mutation|October 7, 2006
Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisonsHildegard Kehrer-Sawatzki, David N CooperPageof 56