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Showing 1–7 of 7 results

Advanced filters: Author: Solène Conrad Clear advanced filters

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Analysis of snRNA genes in individuals with rare disorders identifies de novo and recurrent variants in RNU5B-1 and RNU5A-1, in addition to previously unreported cases with pathogenic or likely pathogenic variants in RNU4-2.

Caroline Nava
Benjamin Cogne
Christel Depienne
ResearchOpen Access16 May 2025
Nature Genetics

Volume: 57, P: 1374-1388
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis

Anne Molitor
Tony Prud’homme
Raphael Carapito
Research08 May 2019
Journal of Human Genetics

Volume: 64, P: 689-694
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature

Fiona Leduc
Perrine Brunelle
Clémence Vanlerberghe
ResearchOpen Access10 May 2025
European Journal of Human Genetics

P: 1-9
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

Josephina A. N. Meester
Anne Hebert
Bart L. Loeys
ResearchOpen Access26 Mar 2024
npj Genomic Medicine

Volume: 9, P: 1-9
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Quentin Thomas
Thierry Gautier
Antonio Vitobello
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1901-1911
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Thomas Besnard
Natacha Sloboda
Bertrand Isidor
Research06 Feb 2019
Genetics in Medicine

Volume: 21, P: 2025-2035
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Henri Margot
Guilaine Boursier
David Geneviève
Research31 Jul 2019
Genetics in Medicine

Volume: 22, P: 181-188