Detalhe da pesquisa
1.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37974505
2.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36914926
3.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35457110
4.
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
Am J Med Genet A
; 185(12): 3877-3883, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34357686
5.
New intragenic rearrangements in non-Finnish mulibrey nanism.
Am J Med Genet A
; 173(10): 2782-2788, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28815877