Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
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
3.
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
4.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Genet Med
; 24(12): 2475-2486, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197437
5.
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Clin Genet
; 102(2): 117-122, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470444
6.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Eur J Hum Genet
; 31(4): 461-468, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747006
7.
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
8.
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Biology (Basel)
; 9(5)2020 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32455636
9.
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