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Epileptic Disorders : International Epilepsy Journal with Videotape|June 22, 2010
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy familyDimitar N Azmanov, Sashka Zhelyazkova, Petya S Dimova, et al.
Genes|September 28, 2024
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim RomaAni Taneva, David Gresham, Velina Guergueltcheva, et al.
Epilepsia|April 30, 2009
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32Dora Angelicheva, Ivailo Tournev, Velina Guergueltcheva, et al.
American Journal of Human Genetics|August 21, 2012
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1Velina Guergueltcheva, Dimitar N Azmanov, Dora Angelicheva, et al.
The Turkish Journal of Pediatrics|October 27, 2020
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotypeValentina Peycheva, Nevyana Ivanova, Kunka Kamenarova, et al.
Neurogenetics|October 4, 2011
New mutations in the ATM gene and clinical data of 25 AT patientsIlja Demuth, Véronique Dutrannoy, Wilson Marques, et al.
Neurology. Genetics|December 30, 2020
Ethnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita Selvatici, Rachele Rossi, Fernanda Fortunato, et al.
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