Showing results (251-260 of 5,629) with videos related to

Sort By:
Pageof 563
European Journal of Human Genetics : EJHG|February 21, 2013
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQAndré Mégarbané, Florian Noguier, Samantha Stora, et al.
European Journal of Human Genetics : EJHG|May 30, 2013
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneJohanna Uusimaa, Julie Evans, Conrad Smith, et al.
European Journal of Human Genetics : EJHG|May 30, 2013
The Genome of the Netherlands: design, and project goalsDorret I Boomsma, Cisca Wijmenga, Eline P Slagboom, et al.
European Journal of Human Genetics : EJHG|May 30, 2013
Shining a light on CNTNAP2: complex functions to complex disordersPedro Rodenas-Cuadrado, Joses Ho, Sonja C Vernes
European Journal of Human Genetics : EJHG|May 30, 2013
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6Simone Rost, Elisa Bach, Cordula Neuner, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Rare copy number variation in cerebral palsyGai McMichael, Santhosh Girirajan, Andres Moreno-De-Luca, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosisElyssia Bourke, Pamela Snow, Amy Herlihy, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene clusterMichelle B Polan, Matthew T Pastore, Katherine Steingass, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Stargardt disease: towards developing a model to predict phenotypeLaura Heathfield, Miguel Lacerda, Christel Nossek, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Secondary variants--in defense of a more fitting term in the incidental findings debateGabrielle M Christenhusz, Koenraad Devriendt, Kris Dierickx
Pageof 563