Detalhe da pesquisa
1.
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
J Med Genet
; 60(4): 406-415, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243518
2.
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Int J Mol Sci
; 22(4)2021 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33557041
3.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376980
4.
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.
Am J Med Genet A
; 182(1): 201-204, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31692235
5.
Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1226: 123787, 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327517
6.
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Eur J Hum Genet
; 28(1): 138, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477843
7.
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Eur J Hum Genet
; 28(1): 64-75, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30877278
8.
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.
J Clin Med
; 9(3)2020 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32121121
9.
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Orphanet J Rare Dis
; 15(1): 44, 2020 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32041641
10.
Case report of a child bearing a novel deleterious splicing variant in PIGT.
Medicine (Baltimore)
; 98(8): e14524, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30813157
11.
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
Clin Case Rep
; 6(8): 1452-1456, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30147881
12.
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.
Sci Rep
; 8(1): 694, 2018 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330474