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Norine Voisin

Showing results (1-10 of 17) with videos related to

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American Journal of Medical Genetics. Part A|February 2, 2021
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variantsFrancesca Mattioli, Norine Voisin, Eglė Preikšaitienė, et al.
Developmental Biology|June 28, 2015
Excessive feedback of Cyp26a1 promotes cell non-autonomous loss of retinoic acid signalingAriel Rydeen, Norine Voisin, Enrico D'Aniello, et al.
European Journal of Medical Genetics|January 17, 2017
Inflammatory myopathy in a patient with Aicardi-Goutières syndromeBirutė Tumienė, Norine Voisin, Eglė Preikšaitienė, et al.
American Journal of Medical Genetics. Part A|December 14, 2019
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian familiesEgle Preiksaitiene, Norine Voisin, Lucie Gueneau, et al.
European Journal of Human Genetics : EJHG|February 11, 2016
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasiaGaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, et al.
Human Molecular Genetics|June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing lossSissy Bassani, Edward van Beelen, Mireille Rossel, et al.
European Journal of Human Genetics : EJHG|July 17, 2014
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectVanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, et al.
American Journal of Human Genetics|December 22, 2020
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
American Journal of Human Genetics|March 5, 2021
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
American Journal of Human Genetics|February 5, 2021
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|February 2, 2021
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variantsFrancesca Mattioli, Norine Voisin, Eglė Preikšaitienė, et al.
Developmental Biology|June 28, 2015
Excessive feedback of Cyp26a1 promotes cell non-autonomous loss of retinoic acid signalingAriel Rydeen, Norine Voisin, Enrico D'Aniello, et al.
European Journal of Medical Genetics|January 17, 2017
Inflammatory myopathy in a patient with Aicardi-Goutières syndromeBirutė Tumienė, Norine Voisin, Eglė Preikšaitienė, et al.
American Journal of Medical Genetics. Part A|December 14, 2019
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian familiesEgle Preiksaitiene, Norine Voisin, Lucie Gueneau, et al.
European Journal of Human Genetics : EJHG|February 11, 2016
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasiaGaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, et al.
Human Molecular Genetics|June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing lossSissy Bassani, Edward van Beelen, Mireille Rossel, et al.
European Journal of Human Genetics : EJHG|July 17, 2014
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effectVanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, et al.
American Journal of Human Genetics|December 22, 2020
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
American Journal of Human Genetics|March 5, 2021
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
American Journal of Human Genetics|February 5, 2021
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
Pageof 2