Detalhe da pesquisa
1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 111(6): 1184-1205, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38744284
2.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet
; 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787418
3.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; 194(7): e63531, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
4.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Am J Med Genet A
; 191(1): 52-63, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196855
5.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369750
6.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737400
7.
Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Am J Med Genet A
; 185(3): 937-944, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33438842
8.
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
J Inherit Metab Dis
; 44(5): 1199-1214, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014557
9.
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Eur J Med Genet
; 69: 104940, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38705458
10.
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
Orphanet J Rare Dis
; 17(1): 86, 2022 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227307
11.
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
Endocrine
; 73(3): 693-701, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999366
12.
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Biology (Basel)
; 9(5)2020 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32455636
13.
Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Otol Neurotol
; 40(1): 121-129, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531642
14.
Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis.
Biology (Basel)
; 5(4)2016 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27775558