Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Molecular Cytogenetics|April 5, 2011
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defectsJawaher Al-Zahrani, Naji Al-Dosari, Nada Abudheim, et al.
Molecular Cytogenetics|May 28, 2019
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patientMaysoon Alsagob, Mustafa A Salih, Muddathir H A Hamad, et al.
American Journal of Human Genetics|May 6, 2017
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen SyndromeNisha Patel, Hanan E Shamseldin, Nadia Sakati, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2008
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan diseaseNamik Kaya, Faiqa Imtiaz, Dilek Colak, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotypeRuqaiah Altassan, Haya Al Saud, Tariq Ahmad Masoodi, et al.
American Journal of Human Genetics|November 26, 2008
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeAnas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, et al.
Nature Genetics|October 22, 2002
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndromeRuti Parvari, Eli Hershkovitz, Nili Grossman, et al.
Annals of Neurology|January 4, 2012
A novel X-linked disorder with developmental delay and autistic featuresNamik Kaya, Dilek Colak, Albandary Albakheet, et al.
Pageof 2