Detalhe da pesquisa
1.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101120, 2024 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469793
2.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36914926
3.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genet Med
; 22(8): 1338-1347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424177
4.
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
Fetal Diagn Ther
; 45(6): 403-412, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121677
5.
The EFEMEREYE Study: prenatal medication exposure and ocular anomaly occurrence in EFEMERIS health database.
J AAPOS
; : 103931, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38719141
6.
Two novel tumours with NTRK2 fusion in the methylation class of extraventricular neurocytomas, including one intraventricular.
Brain Pathol
; 34(3): e13223, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37994695
7.
Estrogen Actions in Placental Vascular Morphogenesis and Spiral Artery Remodeling: A Comparative View between Humans and Mice.
Cells
; 12(4)2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831287
8.
Muscular phenotype description of abnormal THOC2 splicing.
Neuromuscul Disord
; 33(12): 978-982, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37945483
9.
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency.
Mol Syndromol
; 14(2): 101-108, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37064341
10.
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Front Genet
; 14: 1122985, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37152996
11.
Severe placental lesions due to maternal SARS-CoV-2 infection associated to intrauterine fetal death.
Hum Pathol
; 121: 46-55, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34995674
12.
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature.
Bone Rep
; 15: 101097, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34169121
13.
A 4-Year Retrospective Analysis of Salivary Gland Cytopathology Using the Milan System for Reporting Salivary Gland Cytology and Ancillary Studies.
Cancers (Basel)
; 11(12)2019 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31805712
14.
Hepatitis E Virus Infection in a Pregnant Liver Transplant Recipient Leading to Chronic Infection.
Transplant Direct
; 10(6): e1634, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769979
15.
Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia.
Acta Neuropathol Commun
; 7(1): 220, 2019 12 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31888756