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C Goizet

Showing results (41-50 of 49) with videos related to

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Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Neurology|October 7, 2009
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosumC Goizet, A Boukhris, D Maltete, et al.
Scientific Reports|July 6, 2022
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approachC Liautard-Haag, G Durif, C VanGoethem, et al.
Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.
Journal of Internal Medicine|October 27, 2020
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56A Legrand, C Pujol, C M Durand, et al.
Clinical Genetics|September 26, 2015
Fetal phenotypes in otopalatodigital spectrum disordersS Naudion, S Moutton, I Coupry, et al.
Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.
Brain : a Journal of Neurology|August 22, 2009
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patientsM Anheim, B Monga, M Fleury, et al.
Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.
Pageof 5

Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Neurology|October 7, 2009
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosumC Goizet, A Boukhris, D Maltete, et al.
Scientific Reports|July 6, 2022
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approachC Liautard-Haag, G Durif, C VanGoethem, et al.
Journal of Medical Genetics|May 24, 2005
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21M Ali, L J Highet, D Lacombe, et al.
Journal of Internal Medicine|October 27, 2020
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56A Legrand, C Pujol, C M Durand, et al.
Clinical Genetics|September 26, 2015
Fetal phenotypes in otopalatodigital spectrum disordersS Naudion, S Moutton, I Coupry, et al.
Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.
Brain : a Journal of Neurology|August 22, 2009
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patientsM Anheim, B Monga, M Fleury, et al.
Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.
Pageof 5