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1.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Int J Mol Sci
; 24(10)2023 May 13.
Article
in English
| MEDLINE | ID: mdl-37240074
2.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet
; 99(2): 318-324, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33169370
3.
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Am J Med Genet A
; 185(6): 1803-1815, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33754465
4.
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Clin Genet
; 98(2): 166-171, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32361989
5.
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Clin Genet
; 95(3): 384-397, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30614526
6.
Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility.
Reprod Sci
; 2024 Apr 25.
Article
in English
| MEDLINE | ID: mdl-38664359
7.
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Eur J Hum Genet
; 26(7): 996-1006, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29695756
8.
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.
Eur J Hum Genet
; 25(4): 423-431, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28176767
9.
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Orphanet J Rare Dis
; 8: 173, 2013 Oct 28.
Article
in English
| MEDLINE | ID: mdl-24164873
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