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Advances in Experimental Medicine and Biology|April 6, 2013
Polyalanine tract disorders and neurocognitive phenotypesCheryl Shoubridge, Jozef Gecz
Current Opinion in Genetics & Development|July 30, 2020
Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaicsJozef Gecz, Paul Q Thomas
European Journal of Medical Genetics|August 6, 2013
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsyGai McMichael, Eric Haan, Alison Gardner, et al.
European Journal of Medical Genetics|May 3, 2015
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndromeMarie Shaw, Tzu Ying Yap, Lyndal Henden, et al.
International Journal of Molecular Sciences|September 28, 2021
Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for InterventionRebekah de Nys, Raman Kumar, Jozef Gecz
American Journal of Obstetrics and Gynecology|May 25, 2015
Cerebral palsy: causes, pathways, and the role of genetic variantsAlastair H MacLennan, Suzanna C Thompson, Jozef Gecz
American Journal of Medical Genetics. Part A|September 12, 2012
A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disabilityLingli Huang, Gemma Poke, Jozef Gecz, et al.
Neuroscience and Biobehavioral Reviews|November 19, 2013
Nonsense-mediated mRNA decay: inter-individual variability and human diseaseLam Son Nguyen, Miles F Wilkinson, Jozef Gecz
Nature Reviews. Neurology|August 3, 2023
Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiologyClare L van Eyk, Michael C Fahey, Jozef Gecz
European Journal of Human Genetics : EJHG|January 17, 2008
XLMR genes: update 2007Pietro Chiurazzi, Charles E Schwartz, Jozef Gecz, et al.
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