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The New England Journal of Medicine|January 22, 2010
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210Patrick Smits, Andrew D Bolton, Vincent Funari, et al.Biorxiv : the Preprint Server for Biology|April 17, 2023
GENOME REPORT: Chromosome-scale genome assembly of the African spiny mouse ( Acomys cahirinus )Elizabeth Dong Nguyen, Vahid Nikoonejad Fard, Bernard Y Kim, et al.Iscience|December 1, 2021
Spiny mice activate unique transcriptional programs after severe kidney injury regenerating organ function without fibrosisDaryl M Okamura, Chris M Brewer, Paul Wakenight, et al.G3 (Bethesda, Md.)|August 8, 2023
Genome Report: chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus)Elizabeth Dong Nguyen, Vahid Nikoonejad Fard, Bernard Y Kim, et al.American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.Journal of Medical Genetics|May 15, 2023
ARF1-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.American Journal of Human Genetics|August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delayRonit Marom, Lindsay C Burrage, Rossella Venditti, et al.Nature|November 15, 2023
Single-cell, whole-embryo phenotyping of mammalian developmental disordersXingfan Huang, Jana Henck, Chengxiang Qiu, et al.Pageof 15