Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Am J Med Genet A
; 194(6): e63534, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38318947
3.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135915
4.
Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.
Pediatr Dev Pathol
; 27(2): 181-186, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981638
5.
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Genet Med
; 24(2): 439-453, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906501
6.
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
J Inherit Metab Dis
; 45(2): 223-234, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622459
7.
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.
Am J Med Genet A
; 185(9): 2636-2645, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33913595
8.
ALG11-CDG syndrome: Expanding the phenotype.
Am J Med Genet A
; 179(3): 498-502, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30676690
9.
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.
Mol Syndromol
; 15(2): 149-155, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585553
10.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
medRxiv
; 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293053
11.
Jansen de Vries syndrome: Report of four new patients and review of the literature.
Eur J Med Genet
; 66(8): 104807, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37385405
12.
Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome.
Eur J Med Genet
; 65(11): 104626, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36155125
13.
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.
J Clin Med
; 11(7)2022 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35407445
14.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Front Cell Dev Biol
; 10: 1020609, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36726590
15.
An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility.
JBMR Plus
; 5(7): e10509, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258505
16.
High-Resolution Bisulfite-Sequencing of Peripheral Blood DNA Methylation in Early-Onset and Familial Risk Breast Cancer Patients.
Clin Cancer Res
; 25(17): 5301-5314, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175093
17.
Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study.
Mol Genet Genomic Med
; 7(10): e00930, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31411008