Showing results (181-190 of 335) with videos related to
Sort By:
Pageof 34
Case Reports in Genetics|April 11, 2015
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic RicketsTetsuya Kawahara, Hiromi Watanabe, Risa Omae, et al.Case Reports in Genetics|August 1, 2020
Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural AnomaliesShahzaib Khattak, Meryam Jan, Sara Warsi, et al.Case Reports in Genetics|March 28, 2013
Diagnosis of bardet-biedl syndrome in consecutive pregnancies affected with echogenic kidneys and polydactyly in a consanguineous coupleTieneka M Baker, Erica L Sturm, Clesson E Turner, et al.Case Reports in Genetics|March 28, 2013
A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the LiteratureDeniz Gören Sahin, Beyhan Durak, Eren Gündüz, et al.Case Reports in Genetics|August 13, 2013
Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient PatientMelisa Taboas, Cecilia Fernández, Susana Belli, et al.Case Reports in Genetics|August 13, 2013
Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletionAllison Tam, Kit Shan Lee, Sansan Lee, et al.Case Reports in Genetics|August 29, 2013
Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformationsNirmala D Sirisena, U Kalpani S Wijetunge, Ramya de Silva, et al.Case Reports in Genetics|August 29, 2013
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short armMariangela Cisternino, Erika Della Mina, Laura Losa, et al.Case Reports in Genetics|November 6, 2019
Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP MutationNivedita U JerathCase Reports in Genetics|February 25, 2020
A Tanzanian Boy with Molecularly Confirmed X-Linked AdrenoleukodystrophyM C J Dekker, A M Sadiq, R Mc Larty, et al.Pageof 34