Detalhe da pesquisa
1.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141063
2.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain
; 146(10): 4200-4216, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37163662
3.
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
J Med Genet
; 60(1): 48-56, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740919
4.
Novel Variants of SOX4 in Patients with Intellectual Disability.
Int J Mol Sci
; 24(4)2023 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36834931
5.
Patient-individual phenotypes of glioblastoma stem cells are conserved in culture and associate with radioresistance, brain infiltration and patient prognosis.
Int J Cancer
; 150(10): 1722-1733, 2022 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35085407
6.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346573
7.
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
Mol Genet Metab
; 137(3): 273-282, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240581
8.
Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings.
J Cutan Pathol
; 49(3): 293-298, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34672003
9.
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Prenat Diagn
; 42(7): 901-910, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35574990
10.
Assay of ß-glucosidase 2 (GBA2) activity using lithocholic acid ß-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue.
Biol Chem
; 400(6): 745-752, 2019 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30864417
11.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(9): 2160-2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696996
12.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(6): 1295-1307, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349098
13.
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Hum Genet
; 137(5): 401-411, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29796876
14.
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.
Mol Genet Metab
; 138(3): 107372, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739646
15.
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
J Med Genet
; 54(1): 64-72, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27572252
16.
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Am J Med Genet A
; 173(9): 2545-2550, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777483
17.
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset
Neurology
; 102(1): e207898, 2024 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165373
18.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Front Cell Dev Biol
; 10: 1020609, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36726590
19.
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.
Diagnostics (Basel)
; 11(3)2021 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33809020
20.
Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy.
Neurology
; 96(2): e255-e266, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046606