Detalhe da pesquisa
1.
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
Prenat Diagn
; 42(8): 1000-1003, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506546
2.
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Eur J Hum Genet
; 31(4): 474-478, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529819
3.
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.
Psychiatr Genet
; 29(3): 86-90, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30724859
4.
Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.
Hum Mutat
; 29(2): 220-6, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18085567
5.
A deletion 3' to the PAX6 gene in familial aniridia cases.
Mol Vis
; 13: 1245-50, 2007 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-17679951
6.
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
Eur J Paediatr Neurol
; 20(6): 971-976, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27470653
7.
An additional patient with 3q27.3 microdeletion syndrome.
J Child Neurol
; 30(4): 500-4, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25038125
8.
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.
Endocr Connect
; 3(4): 180-92, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25248670
9.
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
BMC Res Notes
; 6: 376, 2013 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24053387
10.
Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome.
Eur J Med Genet
; 53(3): 149-52, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20219704
11.
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
Eur J Med Genet
; 52(4): 273-6, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19254784