Showing results (91-100 of 305) with videos related to
Sort By:
Pageof 31
American Journal of Medical Genetics. Part A|October 18, 2011
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defectMaha S Zaki, Ghada M H Abdel Salam, Sahar N Saleem, et al.Cell|May 8, 2007
Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wristStephanie L Bielas, Finley F Serneo, Magdalena Chechlacz, et al.Journal of Medical Genetics|May 12, 2012
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndromeFernando Jose Martinez, Jeong Ho Lee, Ji Eun Lee, et al.Human Genetics|April 22, 2014
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismGhayda M Mirzaa, Benjamin Vitre, Gillian Carpenter, et al.American Journal of Medical Genetics. Part A|September 20, 2012
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)Ghada M H Abdel-Salam, Ashleigh E Schaffer, Maha S Zaki, et al.Cell Stem Cell|August 23, 2016
Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters ProliferationHongda Li, Laura Saucedo-Cuevas, Jose A Regla-Nava, et al.American Journal of Medical Genetics. Part A|February 19, 2015
Novel STAMBP mutation and additional findings in an Arabic familyEissa A Faqeih, Laila Bastaki, Rasim Ozgur Rosti, et al.European Journal of Pediatrics|March 11, 2026
Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variantsWessam Sharaf-Eldin, Raghda M Ghorab, Karima Rafat, et al.Cell Reports|July 23, 2013
NSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAsShobbir Hussain, Abdulrahim A Sajini, Sandra Blanco, et al.American Journal of Medical Genetics. Part A|April 14, 2007
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocationMaha Zaki, Marwa Shehab, Alice Abd El-Aleem, et al.Pageof 31