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Zanni

Showing results (761-770 of 943) with videos related to

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Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|November 20, 2019
Amino-terminal Pro-B-Type Natriuretic Peptide Among Patients Living With Both Human Immunodeficiency Virus and Heart FailureRaza M Alvi, Markella V Zanni, Anne M Neilan, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 16, 2017
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defectMattia Vicario, Tito Calì, Domenico Cieri, et al.
Clinical Transplantation|August 13, 2015
A prospective analysis of factors associated with decreased physical activity in patients with cirrhosis undergoing transplant evaluationAnna Christina Dela Cruz, Valery Vilchez, Sooyeon Kim, et al.
Human Mutation|August 21, 2015
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal DysplasiaGinevra Zanni, Vera M Kalscheuer, Andreas Friedrich, et al.
Journal of Medical Genetics|July 10, 2007
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangliaY Saillour, G Zanni, V Des Portes, et al.
Brain Sciences|November 14, 2020
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral ProfilingMaria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, et al.
Human Molecular Genetics|March 17, 2018
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathyAntonella Sferra, Fabiana Fattori, Teresa Rizza, et al.
Cerebellum (London, England)|September 10, 2013
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?Andrea Poretti, Martin Häusler, Arpad von Moers, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|September 16, 2016
The ataxia related G1107D mutation of the plasma membrane Ca<sup>2+</sup> ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition processTito Calì, Martina Frizzarin, Laura Luoni, et al.
Science Advances|July 5, 2024
The role of the plasmon in interfacial charge transferBehnaz Ostovar, Stephen A Lee, Arshad Mehmood, et al.
Pageof 95

Showing results (761-770 of 943) with videos related to

Sort By:
Pageof 95
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|November 20, 2019
Amino-terminal Pro-B-Type Natriuretic Peptide Among Patients Living With Both Human Immunodeficiency Virus and Heart FailureRaza M Alvi, Markella V Zanni, Anne M Neilan, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 16, 2017
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defectMattia Vicario, Tito Calì, Domenico Cieri, et al.
Clinical Transplantation|August 13, 2015
A prospective analysis of factors associated with decreased physical activity in patients with cirrhosis undergoing transplant evaluationAnna Christina Dela Cruz, Valery Vilchez, Sooyeon Kim, et al.
Human Mutation|August 21, 2015
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal DysplasiaGinevra Zanni, Vera M Kalscheuer, Andreas Friedrich, et al.
Journal of Medical Genetics|July 10, 2007
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangliaY Saillour, G Zanni, V Des Portes, et al.
Brain Sciences|November 14, 2020
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral ProfilingMaria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, et al.
Human Molecular Genetics|March 17, 2018
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathyAntonella Sferra, Fabiana Fattori, Teresa Rizza, et al.
Cerebellum (London, England)|September 10, 2013
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?Andrea Poretti, Martin Häusler, Arpad von Moers, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|September 16, 2016
The ataxia related G1107D mutation of the plasma membrane Ca<sup>2+</sup> ATPase isoform 3 affects its interplay with calmodulin and the autoinhibition processTito Calì, Martina Frizzarin, Laura Luoni, et al.
Science Advances|July 5, 2024
The role of the plasmon in interfacial charge transferBehnaz Ostovar, Stephen A Lee, Arshad Mehmood, et al.
Pageof 95