Detalhe da pesquisa
1.
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Clin Genet
; 98(6): 620-621, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926417
2.
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
Cytogenet Genome Res
; 147(2-3): 103-10, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26735902
3.
First-trimester combined screening for trisomy 21 in women with renal disease.
Prenat Diagn
; 35(3): 244-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395363
4.
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Eur J Hum Genet
; 32(5): 545-549, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351293
5.
Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.
Eur J Med Genet
; 55(11): 635-40, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22809487
6.
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
Eur J Med Genet
; 54(3): 287-91, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21195811
7.
Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
Eur J Med Genet
; 52(5): 321-7, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19467348