Showing results (301-310 of 344) with videos related to

Sort By:
Pageof 35
Case Reports in Genetics|January 25, 2013
Sickle retinopathy in a person with hemoglobin s/new york diseaseDonovan Calder, Maryse Etienne-Julan, Marc Romana, et al.
Case Reports in Genetics|November 8, 2014
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13Javier Sánchez, Ana Peciña, Olga Alonso-Luengo, et al.
Case Reports in Genetics|April 29, 2026
Clinical Heterogeneity of a TP53 Variant in a Consanguineous Omani Family: A Case Report Featuring a Homozygous Pathogenic VariantMariya Al Hinai, Chantel Van Wyk, Manal Al Kharusi, et al.
Case Reports in Genetics|February 13, 2026
Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case ReportUrsula Abu Nahla, Rahaf Bleibel, Mai Arafeh, et al.
Case Reports in Genetics|October 18, 2012
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndromeDiana C Darcy, Scott Rosenthal, Robert J Wallerstein
Case Reports in Genetics|April 9, 2014
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic AneurysmKristi K Fitzgerald, Abdul Majeed Bhat, Katrina Conard, et al.
Case Reports in Genetics|May 26, 2018
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery AneurysmAhmed Mohammad, Haytham Helmi, Paldeep S Atwal
Case Reports in Genetics|January 6, 2017
An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe MicrocephalyTrupti Kale, Melissa Philip
Case Reports in Genetics|March 4, 2014
First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation CarrierAlexandre Rouen, Capucine Hyon, Richard Balet, et al.
Case Reports in Genetics|March 21, 2014
Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literatureTrent Burgess, Lilian Downie, Mark D Pertile, et al.
Pageof 35