Showing results (101-110 of 289) with videos related to

Sort By:
Pageof 29
European Journal of Human Genetics : EJHG|April 18, 2003
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosomeDeepak Kamnasaran, Patricia C O'Brien, Elaine H Zackai, et al.
Human Molecular Genetics|July 5, 2005
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2Erich Roessler, Alexandre N Ermilov, Dorothy Katherine Grange, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2016
Towards a more representative morphology: clinical and ethical considerations for including diverse populations in diagnostic genetic atlasesMaya Koretzky, Vence L Bonham, Benjamin E Berkman, et al.
Human Mutation|July 12, 2018
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signalingErich Roessler, Ping Hu, Juliana Marino, et al.
Human Mutation|September 17, 2020
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish modelSungkook Hong, Ping Hu, Jae Hee Jang, et al.
Medrxiv : the Preprint Server for Health Sciences|June 29, 2026
Looked but didn't see: inattentional blindness and yes-bias confabulation in vision-language modelsJonathan D Raymond, Dat Duong, Ping Hu, et al.
Congenital Anomalies|January 18, 2011
Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) associationBenjamin D Solomon, Manu S Raam, Daniel E Pineda-Alvarez
Human Genetics|February 3, 2009
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humansErich Roessler, Yong Ma, Maia V Ouspenskaia, et al.
American Journal of Medical Genetics. Part A|October 16, 2007
Trisomy 9 mosaicism and XX sex reversalBenjamin D Solomon, Clesson E Turner, Darren Klugman, et al.
Genes|November 27, 2021
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated PhenotypesCedrik Tekendo-Ngongang, Angela Grochowsky, Benjamin D Solomon, et al.
Pageof 29