Detalhe da pesquisa
1.
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Am J Med Genet A
; 185(8): 2561-2571, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34008892
2.
Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype.
Gynecol Endocrinol
; 37(4): 377-381, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33356667
3.
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
Clin Genet
; 95(3): 403-408, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30417326
4.
Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly.
Pediatr Res
; 82(2): 253-260, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422950
5.
Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene.
Menopause
; 29(4): 491-495, 2022 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35013061
6.
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.
Eur J Med Genet
; 65(8): 104537, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35690317
7.
Two novel variants in the TCF12 gene identified in cases with craniosynostosis.
Appl Clin Genet
; 12: 19-25, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858722
8.
Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.
Postgrad Med
; 131(7): 445-452, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31443616
9.
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA.
J Neurol Sci
; 395: 95-105, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30308447
10.
Cantú Syndrome Associated with Ovarian Agenesis.
Mol Syndromol
; 8(4): 206-210, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28690487
11.
CMV-related immune thrombocytopenic purpura or CMV-induced thrombocytopenia?
Br J Haematol
; 149(3): 454-5, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20096016
12.
Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
Eur J Paediatr Neurol
; 17(3): 316-20, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23352671