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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.Nature Reviews. Endocrinology|November 27, 2021
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasiaRavi Savarirayan, Penny Ireland, Melita Irving, et al.Cancer Letters|October 31, 2020
Challenges of the current precision medicine approach for pancreatic cancer: A single institution experience between 2013 and 2017Ding Ding, Ammar A Javed, Dea Cunningham, et al.F1000Research|November 5, 2015
The khmer software package: enabling efficient nucleotide sequence analysisMichael R Crusoe, Hussien F Alameldin, Sherine Awad, et al.American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.Nature Genetics|August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.Pageof 36