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1.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35446447
2.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35842780
3.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34748075
4.
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Hum Mutat
; 41(5): 926-933, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32058622
5.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38284452
6.
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Pigment Cell Melanoma Res
; 2023 Aug 31.
Article
in English
| MEDLINE | ID: mdl-37650133
7.
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
Eur J Hum Genet
; 31(8): 895-904, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37188826
8.
Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.
Eur J Med Genet
; 65(9): 104556, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-35781022
9.
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.
Eur J Med Genet
; 64(4): 104166, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33571694
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