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Human Mutation|January 28, 2010
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)Katherine J Dick, Matthias Eckhardt, Coro Paisán-Ruiz, et al.American Journal of Human Genetics|May 7, 2002
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneityMarco Tartaglia, Kamini Kalidas, Adam Shaw, et al.American Journal of Human Genetics|February 7, 2008
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degenerationMaria K Tsaousidou, Karim Ouahchi, Tom T Warner, et al.Journal of Medical Genetics|December 18, 2012
Mutation of HERC2 causes developmental delay with Angelman-like featuresGaurav V Harlalka, Emma L Baple, Harold Cross, et al.American Journal of Human Genetics|October 26, 2010
Defective mitochondrial mRNA maturation is associated with spastic ataxiaAndrew H Crosby, Heema Patel, Barry A Chioza, et al.Nature Genetics|October 27, 2004
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthaseMichael A Simpson, Harold Cross, Christos Proukakis, et al.Human Genetics|October 18, 2002
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeAndra Ion, Marco Tartaglia, Xiaoling Song, et al.Nature Genetics|May 26, 2015
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndromeVafa Alakbarzade, Abdul Hameed, Debra Q Y Quek, et al.American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.Pageof 4