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Salmo Raskin

Showing results (71-80 of 112) with videos related to

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Arquivos De Neuro-Psiquiatria|December 21, 2004
Cerebrotendinous xanthomatosis: report of two Brazilian brothersMarcos Christiano Lange, Viviane Flumignan Zétola, Helio A G Teive, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counselingLuciana Rodrigues Jacy da Silva, Mileny Esbravatti Stephano Colovati, Bruno Coprerski, et al.
Genetic Testing|December 4, 2003
High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testingSalmo Raskin, Lilian Pereira, Francisco Reis, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 14, 2012
Olfactory impairment in familial ataxiasMariana Moscovich, Renato Puppi Munhoz, Helio A Teive, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 26, 2008
Huntington's disease-like 2 in Brazil--report of 4 patientsGuilherme G Riccioppo Rodrigues, Ruth H Walker, Alexis Brice, et al.
Arquivos De Neuro-Psiquiatria|August 29, 2013
Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B geneRicardo Schmitt de Bem, Salmo Raskin, Dominique Araújo Muzzillo, et al.
American Journal of Medical Genetics. Part A|March 25, 2004
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutationsGabriela Coutinho, Midori Mitui, Catarina Campbell, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|January 26, 2023
Autism and duplication of 17q12q21.2 by array-CGH: a case reportAlana Weingartner, Naiara Bozza Pegoraro, Rie Tiba Maglioni, et al.
American Journal of Medical Genetics. Part A|July 6, 2010
The face of Noonan syndrome: Does phenotype predict genotypeJudith E Allanson, Axel Bohring, Helmuth-Guenther Dörr, et al.
Human Mutation|May 20, 2003
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancyLieve Claes, Berten Ceulemans, Dominique Audenaert, et al.
Pageof 12

Showing results (71-80 of 112) with videos related to

Sort By:
Pageof 12
Arquivos De Neuro-Psiquiatria|December 21, 2004
Cerebrotendinous xanthomatosis: report of two Brazilian brothersMarcos Christiano Lange, Viviane Flumignan Zétola, Helio A G Teive, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counselingLuciana Rodrigues Jacy da Silva, Mileny Esbravatti Stephano Colovati, Bruno Coprerski, et al.
Genetic Testing|December 4, 2003
High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testingSalmo Raskin, Lilian Pereira, Francisco Reis, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 14, 2012
Olfactory impairment in familial ataxiasMariana Moscovich, Renato Puppi Munhoz, Helio A Teive, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 26, 2008
Huntington's disease-like 2 in Brazil--report of 4 patientsGuilherme G Riccioppo Rodrigues, Ruth H Walker, Alexis Brice, et al.
Arquivos De Neuro-Psiquiatria|August 29, 2013
Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B geneRicardo Schmitt de Bem, Salmo Raskin, Dominique Araújo Muzzillo, et al.
American Journal of Medical Genetics. Part A|March 25, 2004
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutationsGabriela Coutinho, Midori Mitui, Catarina Campbell, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|January 26, 2023
Autism and duplication of 17q12q21.2 by array-CGH: a case reportAlana Weingartner, Naiara Bozza Pegoraro, Rie Tiba Maglioni, et al.
American Journal of Medical Genetics. Part A|July 6, 2010
The face of Noonan syndrome: Does phenotype predict genotypeJudith E Allanson, Axel Bohring, Helmuth-Guenther Dörr, et al.
Human Mutation|May 20, 2003
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancyLieve Claes, Berten Ceulemans, Dominique Audenaert, et al.
Pageof 12