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Y Anikster

Showing results (41-50 of 53) with videos related to

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Molecular Genetics and Metabolism|August 13, 1999
Mutations of CTNS causing intermediate cystinosisJ Thoene, R Lemons, Y Anikster, et al.
Molecular Genetics and Metabolism|November 16, 2001
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristicsT C Falik-Zaccai, Y Anikster, C E Rivera, et al.
Annals of Human Genetics|February 26, 2008
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli populationD Bercovich, A Elimelech, T Yardeni, et al.
Journal of Inherited Metabolic Disease|August 18, 2009
Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat modelC N Madhavarao, P Arun, Y Anikster, et al.
American Journal of Human Genetics|October 9, 2001
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiencyM Huizing, Y Anikster, D L Fitzpatrick, et al.
Genome Research|February 15, 2000
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletionJ W Touchman, Y Anikster, N L Dietrich, et al.
Nature Genetics|July 17, 2001
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto RicoY Anikster, M Huizing, J White, et al.
Pediatric Research|January 7, 2000
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlationsY Anikster, C Lucero, J Guo, et al.
Molecular Genetics and Metabolism Reports|July 14, 2016
Creatine transporter deficiency: Novel mutations and functional studiesO Ardon, M Procter, R Mao, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 3, 2017
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavinG Heimer, E Eyal, X Zhu, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
Molecular Genetics and Metabolism|August 13, 1999
Mutations of CTNS causing intermediate cystinosisJ Thoene, R Lemons, Y Anikster, et al.
Molecular Genetics and Metabolism|November 16, 2001
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristicsT C Falik-Zaccai, Y Anikster, C E Rivera, et al.
Annals of Human Genetics|February 26, 2008
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli populationD Bercovich, A Elimelech, T Yardeni, et al.
Journal of Inherited Metabolic Disease|August 18, 2009
Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat modelC N Madhavarao, P Arun, Y Anikster, et al.
American Journal of Human Genetics|October 9, 2001
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiencyM Huizing, Y Anikster, D L Fitzpatrick, et al.
Genome Research|February 15, 2000
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletionJ W Touchman, Y Anikster, N L Dietrich, et al.
Nature Genetics|July 17, 2001
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto RicoY Anikster, M Huizing, J White, et al.
Pediatric Research|January 7, 2000
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlationsY Anikster, C Lucero, J Guo, et al.
Molecular Genetics and Metabolism Reports|July 14, 2016
Creatine transporter deficiency: Novel mutations and functional studiesO Ardon, M Procter, R Mao, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 3, 2017
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavinG Heimer, E Eyal, X Zhu, et al.
Pageof 6