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Salmo Raskin

Showing results (61-70 of 112) with videos related to

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Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|September 20, 2023
Multiple copy number variation in a patient with Kleefstra syndromeThomas Nohama Lee, Henrique El Laden Rechetello, João Batista De Arêa Lima Júnior, et al.
Neurogenetics|December 10, 2013
Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizuresKaren N McFarland, Jilin Liu, Ivette Landrian, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridizationAguinaldo Bonalumi Filho, Josiane Souza, Fábio Rueda Faucz, et al.
International Journal of Molecular Sciences|June 24, 2022
Novel <i>OPN1LW/OPN1MW</i> Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone DysfunctionKatarina Stingl, Britta Baumann, Pietro De Angeli, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|April 12, 2023
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, et al.
Parkinsonism & Related Disorders|August 4, 2020
Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patientsAlex Tiburtino Meira, Walter Oleschko Arruda, Sergio Eiji Ono, et al.
Cerebellum (London, England)|May 6, 2020
Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) PatientsWalter Oleschko Arruda, Alex Tiburtino Meira, Sergio Eiji Ono, et al.
Movement Disorders Clinical Practice|October 27, 2018
'Pseudo-Dominant' Inheritance in Friedreich's Ataxia: Clinical and Genetic Study of a Brazilian FamilyAdriana Moro, Alberto R M Martinez, Simone C V Karuta, et al.
European Journal of Human Genetics : EJHG|February 28, 2013
Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instabilityKaren N McFarland, Jilin Liu, Ivette Landrian, et al.
Orphanet Journal of Rare Diseases|November 27, 2024
Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statementRoberto Giugliani, Ana Cecília Menezes de Siqueira, Emerson Santana Santos, et al.
Pageof 12

Showing results (61-70 of 112) with videos related to

Sort By:
Pageof 12
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|September 20, 2023
Multiple copy number variation in a patient with Kleefstra syndromeThomas Nohama Lee, Henrique El Laden Rechetello, João Batista De Arêa Lima Júnior, et al.
Neurogenetics|December 10, 2013
Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizuresKaren N McFarland, Jilin Liu, Ivette Landrian, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridizationAguinaldo Bonalumi Filho, Josiane Souza, Fábio Rueda Faucz, et al.
International Journal of Molecular Sciences|June 24, 2022
Novel <i>OPN1LW/OPN1MW</i> Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone DysfunctionKatarina Stingl, Britta Baumann, Pietro De Angeli, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|April 12, 2023
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, et al.
Parkinsonism & Related Disorders|August 4, 2020
Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patientsAlex Tiburtino Meira, Walter Oleschko Arruda, Sergio Eiji Ono, et al.
Cerebellum (London, England)|May 6, 2020
Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) PatientsWalter Oleschko Arruda, Alex Tiburtino Meira, Sergio Eiji Ono, et al.
Movement Disorders Clinical Practice|October 27, 2018
'Pseudo-Dominant' Inheritance in Friedreich's Ataxia: Clinical and Genetic Study of a Brazilian FamilyAdriana Moro, Alberto R M Martinez, Simone C V Karuta, et al.
European Journal of Human Genetics : EJHG|February 28, 2013
Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instabilityKaren N McFarland, Jilin Liu, Ivette Landrian, et al.
Orphanet Journal of Rare Diseases|November 27, 2024
Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statementRoberto Giugliani, Ana Cecília Menezes de Siqueira, Emerson Santana Santos, et al.
Pageof 12