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Journal of Genetic Counseling|July 5, 2015
Guidelines for Writing Letters to PatientsDiane L Baker, Timothy Eash, Jane L Schuette, et al.Journal of Genetic Counseling|August 21, 2012
Who counsels parents of newborns who are carriers of sickle cell anemia or cystic fibrosis?Kathryn L Moseley, Samya Z Nasr, Jane L Schuette, et al.Journal of Genetic Counseling|May 19, 2015
Parents' Perspectives on Variants of Uncertain Significance from Chromosome Microarray AnalysisLesli A Kiedrowski, Kailey M Owens, Beverly M Yashar, et al.Head & Neck|June 4, 2013
Novel DICER1 mutation as cause of multinodular goiter in childrenIlaaf Darrat, Jirair K Bedoyan, Ming Chen, et al.American Journal of Medical Genetics. Part A|February 7, 2016
Duplication 2p25 in a child with clinical features of CHARGE syndromeEthan D Sperry, Jane L Schuette, Conny M A van Ravenswaaij-Arts, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Darrel Waggoner, Karen E Wain, Adrian M Dubuc, et al.American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.American Journal of Human Genetics|December 7, 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsJason A O'Rawe, Yiyang Wu, Max J Dörfel, et al.Biological Psychiatry|August 25, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBrett V Johnson, Raman Kumar, Sabrina Oishi, et al.Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.Pageof 1