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L Basel-Vanagaite

Showing results (1-10 of 22) with videos related to

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Clinical Genetics|August 28, 2007
Genetics of autosomal recessive non-syndromic mental retardation: recent advancesL Basel-Vanagaite
The Annals of Pharmacotherapy|January 12, 2000
Edema associated with valproate therapyL Basel-Vanagaite, A Zeharia, J Amir, et al.
Clinical and Experimental Dermatology|December 3, 2013
A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large familyO Eytan, O Sarig, S Israeli, et al.
Molecular Syndromology|December 6, 2011
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype CorrelationsL Basel-Vanagaite, M Pasmanik-Chor, R Lurie, et al.
Journal of Medical Genetics|October 22, 2003
Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneityL Basel-Vanagaite, A Alkelai, R Straussberg, et al.
Clinical Genetics|May 3, 2006
Expanding the phenotypic spectrum of L1CAM-associated diseaseL Basel-Vanagaite, R Straussberg, M J Friez, et al.
Clinical Genetics|December 15, 2015
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysisL Basel-Vanagaite, L Wolf, M Orin, et al.
Clinical Oncology (Royal College of Radiologists (Great Britain))|June 19, 2007
Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutationA Salmon, D Amikam, N Sodha, et al.
Neurology|January 14, 2004
Infantile bilateral striatal necrosis maps to chromosome 19qL Basel-Vanagaite, R Straussberg, H Ovadia, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 22, 2013
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli familyM Abu-Rashid, M Mahajnah, L Jaber, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Clinical Genetics|August 28, 2007
Genetics of autosomal recessive non-syndromic mental retardation: recent advancesL Basel-Vanagaite
The Annals of Pharmacotherapy|January 12, 2000
Edema associated with valproate therapyL Basel-Vanagaite, A Zeharia, J Amir, et al.
Clinical and Experimental Dermatology|December 3, 2013
A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large familyO Eytan, O Sarig, S Israeli, et al.
Molecular Syndromology|December 6, 2011
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype CorrelationsL Basel-Vanagaite, M Pasmanik-Chor, R Lurie, et al.
Journal of Medical Genetics|October 22, 2003
Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneityL Basel-Vanagaite, A Alkelai, R Straussberg, et al.
Clinical Genetics|May 3, 2006
Expanding the phenotypic spectrum of L1CAM-associated diseaseL Basel-Vanagaite, R Straussberg, M J Friez, et al.
Clinical Genetics|December 15, 2015
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysisL Basel-Vanagaite, L Wolf, M Orin, et al.
Clinical Oncology (Royal College of Radiologists (Great Britain))|June 19, 2007
Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutationA Salmon, D Amikam, N Sodha, et al.
Neurology|January 14, 2004
Infantile bilateral striatal necrosis maps to chromosome 19qL Basel-Vanagaite, R Straussberg, H Ovadia, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 22, 2013
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli familyM Abu-Rashid, M Mahajnah, L Jaber, et al.
Pageof 3