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Case Reports in Genetics|March 20, 2013
A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal SyndromeM A Ramirez-Garcia, O F Chacon-Camacho, C Leyva-Hernandez, et al.Case Reports in Genetics|July 24, 2026
From Diagnosis to Disclosure: Navigating Genetic Counseling Dilemmas in BRCA2-Associated Prostate Cancer in the Middle EastChantel van Wyk, Reem Abdulrahim, Ilse Crous, et al.Case Reports in Genetics|December 21, 2020
Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland OriginMarie Zerjav, Autumn DiAdamo, Brittany Grommisch, et al.Case Reports in Genetics|October 24, 2013
Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral bloodAmy L Shackelford, Laura K Conlin, Marybeth Hummel, et al.Case Reports in Genetics|October 24, 2013
Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication SyndromeM Abreu-González, C García-Delgado, A Cervantes, et al.Case Reports in Genetics|March 22, 2016
False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13Yang Cao, Nicole L Hoppman, Sarah E Kerr, et al.Case Reports in Genetics|May 3, 2022
Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical TriadShir Wey Gloria Pang, Hencher Han Chih Lee, Carol Ng Wing Kei, et al.Case Reports in Genetics|July 18, 2022
Novel EPG5 Mutation Associated with Vici Syndrome GeneFrouzandeh Mahjoubi, Samira Shabani, Sogand Khakbazpour, et al.Case Reports in Genetics|February 7, 2017
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz SyndromeMichael T Zimmermann, Raul A Urrutia, Patrick R Blackburn, et al.Case Reports in Genetics|February 7, 2017
Further Evidence That the CFTR Variant c.2620-6T>C Is BenignViolet I Wallerstein, Robert WallersteinPageof 34