Detalhe da pesquisa
1.
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
J Med Genet
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38849204
2.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737400
3.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732226
4.
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Hum Mutat
; 41(5): 926-933, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32058622
5.
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Clin Genet
; 97(5): 723-730, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898322
6.
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Clin Chem
; 65(9): 1153-1160, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292136
7.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035737
8.
Outcomes following prenatal diagnosis of isolated persistent left superior vena cava.
Arch Cardiovasc Dis
; 115(6-7): 335-347, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35660361
9.
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.
Eur J Med Genet
; 65(2): 104407, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34942405
10.
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.
Mol Cytogenet
; 14(1): 23, 2021 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33952337
11.
Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging.
Sci Rep
; 11(1): 1906, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33479270
12.
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.
Eur J Med Genet
; 64(4): 104166, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33571694
13.
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Orphanet J Rare Dis
; 16(1): 504, 2021 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863227
14.
Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene.
Neuromuscul Disord
; 30(3): 207-212, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32008911
15.
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Transl Psychiatry
; 10(1): 77, 2020 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32094338
16.
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
J Clin Med
; 9(5)2020 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32384747
17.
Prevalence and Significance of Rare Genetic Variants in AKAP9 in Inherited Cardiac Diseases.
Circ Genom Precis Med
; 17(1): e004260, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258564
18.
Gestational choriocarcinoma associated with a germline TP53 mutation.
Fam Cancer
; 17(1): 113-117, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28477316
19.
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Clin Chim Acta
; 481: 1-8, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29476731
20.
Genome microevolution of chikungunya viruses causing the Indian Ocean outbreak.
PLoS Med
; 3(7): e263, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16700631