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Neurogenetics
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September 17, 2020
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females
Marcello Scala, Evelien Zonneveld-Huijssoon, Marianna Brienza, et al.
Neurogenetics
|
January 4, 2021
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review
Gauthier Remiche, Isabelle Vandernoot, Niloufar Sadeghi-Meibodi, et al.
Neurogenetics
|
May 28, 2021
Does genetic anticipation occur in familial Alexander disease?
Camille K Hunt, Ahmad Al Khleifat, Ella Burchill, et al.
Neurogenetics
|
June 25, 2025
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias
Mouna Messaoud-Khelifi, Razika Boulariah-Hadjou, Mohamed Islam Kediha, et al.
Neurogenetics
|
May 13, 2022
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease
Taner Karakaya, Ayberk Turkyilmaz, Gunes Sager, et al.
Neurogenetics
|
May 18, 1999
Fine localization of the CMT4A locus using a PAC contig and haplotype analysis
K Ben Othmane, J M Rochelle, M Ben Hamida, et al.
Neurogenetics
|
May 18, 1999
Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33
B A Hosler, P C Sapp, R Berger, et al.
Neurogenetics
|
May 18, 1999
The NF2 gene and merlin protein in human osteosarcomas
A O Stemmer-Rachamimov, G P Nielsen, A E Rosenberg, et al.
Neurogenetics
|
August 22, 2019
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients
Priyam Narain, Aditya K Padhi, Upma Dave, et al.
Neurogenetics
|
October 22, 2018
Ataxia telangiectasia alters the ApoB and reelin pathway
Júlia Canet-Pons, Ralf Schubert, Ruth Pia Duecker, et al.
Page
of 109
Search research articles
Search
Showing results (451-460 of 1,081) with videos related to
Sort By:
Page
of 109
Neurogenetics
|
September 17, 2020
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females
Marcello Scala, Evelien Zonneveld-Huijssoon, Marianna Brienza, et al.
Neurogenetics
|
January 4, 2021
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review
Gauthier Remiche, Isabelle Vandernoot, Niloufar Sadeghi-Meibodi, et al.
Neurogenetics
|
May 28, 2021
Does genetic anticipation occur in familial Alexander disease?
Camille K Hunt, Ahmad Al Khleifat, Ella Burchill, et al.
Neurogenetics
|
June 25, 2025
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias
Mouna Messaoud-Khelifi, Razika Boulariah-Hadjou, Mohamed Islam Kediha, et al.
Neurogenetics
|
May 13, 2022
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease
Taner Karakaya, Ayberk Turkyilmaz, Gunes Sager, et al.
Neurogenetics
|
May 18, 1999
Fine localization of the CMT4A locus using a PAC contig and haplotype analysis
K Ben Othmane, J M Rochelle, M Ben Hamida, et al.
Neurogenetics
|
May 18, 1999
Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33
B A Hosler, P C Sapp, R Berger, et al.
Neurogenetics
|
May 18, 1999
The NF2 gene and merlin protein in human osteosarcomas
A O Stemmer-Rachamimov, G P Nielsen, A E Rosenberg, et al.
Neurogenetics
|
August 22, 2019
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients
Priyam Narain, Aditya K Padhi, Upma Dave, et al.
Neurogenetics
|
October 22, 2018
Ataxia telangiectasia alters the ApoB and reelin pathway
Júlia Canet-Pons, Ralf Schubert, Ruth Pia Duecker, et al.
Page
of 109