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Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364: dépôt récent

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Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

Johannesen, K. M.; Iqbal, S.; Guazzi, M.; et al.
Genet. Med., 06-09-2023, 24, -

Article dans une revue scientifique
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Tessadori, F.; Duran, K.; Knapp, K.; et al.
Am J Hum Genet, 03-03-2022

Article dans une revue scientifique
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Al-Jawahiri, R.; Foroutan, A.; Kerkhof, J.; et al.
Genet. Med., 06-09-2023, 24, -

Article dans une revue scientifique
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>.

Happ, H. C.; Sadleir, L. G.; Zemel, M.; et al.
Neurology, 06-09-2023, 100, e603-e615

Article dans une revue scientifique
Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.

Riquet, A.; Cleuziou, P.; Floret, V.; et al.
Pediatr Neurol, 21-12-2022, 139, 22-23

Article dans une revue scientifique
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

Michaud, V.; Sequeira, A.; Mercier, E.; et al.
Pigment Cell Melanoma Res, 06-09-2023

Article dans une revue scientifique
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.

Boursier, A.; Boudry, A.; Mitchell, V.; et al.
Reprod Biomed Online, 25-09-2023, 47, 103328

Article dans une revue scientifique
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.

Uctepe, E.; Vona, B.; Esen, F. N.; et al.
Eur J Hum Genet, 30-10-2023

Article dans une revue scientifique
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder.

Gokce-Samar, Z.; Vetro, A.; De Bellescize, J.; et al.
Neurology, 10-01-2024, 102, e207945

Article dans une revue scientifique
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Paulet, A.; Bennett-Ness, C.; Ageorges, F.; et al.
Eur J Hum Genet, 10-04-2024

Article dans une revue scientifique

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364: dépôt récent

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations ﻿

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. ﻿

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile ﻿

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>. ﻿

Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G. ﻿

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. ﻿

Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy. ﻿

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly. ﻿

Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder. ﻿

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. ﻿

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>.

Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.

Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.