Showing results (551-560 of 627) with videos related to

Sort By:
Pageof 63
European Journal of Human Genetics : EJHG|May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesJianling Ji, Hane Lee, Bob Argiropoulos, et al.
American Journal of Human Genetics|April 21, 2015
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion SyndromeElisabeth E Mlynarski, Molly B Sheridan, Michael Xie, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
The Journal of Molecular Diagnostics : JMD|January 22, 2022
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, et al.
American Journal of Medical Genetics. Part A|February 8, 2024
Personal journeys to and in human genetics and dysmorphologyCharles E Schwartz, Arthur S Aylsworth, Judith Allanson, et al.
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
JAMA|November 19, 2009
Clinical and mutational spectrum of neurofibromatosis type 1-like syndromeLudwine Messiaen, Suxia Yao, Hilde Brems, et al.
Molecular Syndromology|December 6, 2011
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1A Theisen, J A Rosenfeld, K Shane, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 23, 2023
Dominant-negative variants in CBX1 cause a neurodevelopmental disorderYukiko Kuroda, Aiko Iwata-Otsubo, Kerith-Rae Dias, et al.
American Journal of Human Genetics|July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and CraniosynostosisAimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
Pageof 63