Detalhe da pesquisa
1.
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.
Prenat Diagn
; 44(3): 289-296, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38342960
2.
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.
Prenat Diagn
; 44(4): 401-408, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141050
3.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553196
4.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
5.
Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing.
Reprod Biomed Online
; 45(5): 867-877, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35963754
6.
Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.
Int J Mol Sci
; 23(1)2021 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008861
7.
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(7): 1667-1671, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30783266
8.
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(6): 1308-1318, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30356099
9.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
10.
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
Eur J Med Genet
; 66(10): 104844, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37709011
11.
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
J Bone Miner Res
; 37(9): 1642-1652, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35748595
12.
Response to the comment on Diderich et al. "The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis" (EJMG 66(10),104844).
Eur J Med Genet
; 67: 104884, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37972850
13.
Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.
Circ Genom Precis Med
; 12(9): 397-406, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31461301
14.
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
Sci Rep
; 8(1): 15436, 2018 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30337552
15.
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Genome Med
; 10(1): 3, 2018 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29310717
16.
Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.
Circ Genom Precis Med
; 11(12): e002397, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30562116