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European Journal of Human Genetics : EJHG|December 7, 2006
Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in IsraelLina Basel-Vanagaite, Ellen Taub, Gabrielle J Halpern, et al.
BMC Medical Genetics|December 19, 2012
Genotype-phenotype correlation in 22q11.2 deletion syndromeElena Michaelovsky, Amos Frisch, Miri Carmel, et al.
Molecular Vision|July 25, 2013
Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosaNitza Goldenberg-Cohen, Eyal Banin, Yael Zalzstein, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 19, 2014
Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22Rony Cohen, Lina Basel-Vanagaite, Hadassah Goldberg-Stern, et al.
Epilepsy Research|March 18, 2014
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)Ginevra Zanni, Sabina Barresi, Roni Cohen, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?Daphna Marom, Adi Albin, Charles Schwartz, et al.
Acta Dermato-Venereologica|March 18, 2016
Intra-familial Variation in Clinical Phenotype of CARD14-related PsoriasisMarina Eskin-Schwartz, Lina Basel-Vanagaite, Michael David, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 16, 2014
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutationRachel Straussberg, Esther Ganelin-Cohen, Hadassah Goldberg-Stern, et al.
American Journal of Medical Genetics. Part A|November 22, 2017
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patientsRüstem Yilmaz, Katalin Szakszon, Anna Altmann, et al.
American Journal of Medical Genetics. Part A|October 28, 2010
Familial hydrocephalus with normal cognition and distinctive radiological featuresLina Basel-Vanagaite, Annick Raas-Rotchild, Liora Kornreich, et al.
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