Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Salmo Raskin

Showing results (81-90 of 112) with videos related to

Pageof 12
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2005
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiencyNaohiro Kurotaki, Joseph J Shen, Mayumi Touyama, et al.
Plos Genetics|June 16, 2010
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10Misti C White, Rui Gao, Weidong Xu, et al.
Cerebellum (London, England)|October 10, 2025
Cognitive Deficits in Spinocerebellar Ataxia Type 2: A Comparative Analysis of Pre-ataxic and Ataxic StagesRenata Barreto Tenorio, Andressa Aline Vieira, Walter Oleschko Arruda, et al.
Brain : a Journal of Neurology|May 24, 2003
Parkin mutations are frequent in patients with isolated early-onset parkinsonismMagali Periquet, Morwena Latouche, Ebba Lohmann, et al.
Arquivos De Neuro-Psiquiatria|March 29, 2014
Niemann-Pick disease type C: a case series of Brazilian patientsPaulo José Lorenzoni, Elaine Cardoso, Ana C S Crippa, et al.
Annals of Clinical and Translational Neurology|August 9, 2023
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202AsnStephanie Efthymiou, Luiz E Novis, Georgios Koutsis, et al.
Journal of Medical Genetics|October 24, 2006
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMartin Zenker, Katarina Lehmann, Anna Leana Schulz, et al.
Journal of Medical Genetics|September 8, 2016
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndromeAnna Schossig, Agnès Bloch-Zupan, Adrian Lussi, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|June 5, 2007
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patientsSalmo Raskin, Lilian Pereira-Ferrari, Francisco Caldeira Reis, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypesJill A Rosenfeld, Joanne Milisa Drautz, Carol L Clericuzio, et al.
Pageof 12

Showing results (81-90 of 112) with videos related to

Sort By:
Pageof 12
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2005
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiencyNaohiro Kurotaki, Joseph J Shen, Mayumi Touyama, et al.
Plos Genetics|June 16, 2010
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10Misti C White, Rui Gao, Weidong Xu, et al.
Cerebellum (London, England)|October 10, 2025
Cognitive Deficits in Spinocerebellar Ataxia Type 2: A Comparative Analysis of Pre-ataxic and Ataxic StagesRenata Barreto Tenorio, Andressa Aline Vieira, Walter Oleschko Arruda, et al.
Brain : a Journal of Neurology|May 24, 2003
Parkin mutations are frequent in patients with isolated early-onset parkinsonismMagali Periquet, Morwena Latouche, Ebba Lohmann, et al.
Arquivos De Neuro-Psiquiatria|March 29, 2014
Niemann-Pick disease type C: a case series of Brazilian patientsPaulo José Lorenzoni, Elaine Cardoso, Ana C S Crippa, et al.
Annals of Clinical and Translational Neurology|August 9, 2023
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202AsnStephanie Efthymiou, Luiz E Novis, Georgios Koutsis, et al.
Journal of Medical Genetics|October 24, 2006
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMartin Zenker, Katarina Lehmann, Anna Leana Schulz, et al.
Journal of Medical Genetics|September 8, 2016
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndromeAnna Schossig, Agnès Bloch-Zupan, Adrian Lussi, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|June 5, 2007
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patientsSalmo Raskin, Lilian Pereira-Ferrari, Francisco Caldeira Reis, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypesJill A Rosenfeld, Joanne Milisa Drautz, Carol L Clericuzio, et al.
Pageof 12