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.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
3.
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Neurogenetics
; 23(2): 115-127, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35106698
4.
The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report.
SAGE Open Med Case Rep
; 12: 2050313X241245317, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585419
5.
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
medRxiv
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503210
6.
A de novo chromosome 9p duplication in a female child with short stature and developmental delay.
SAGE Open Med Case Rep
; 11: 2050313X231160883, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36968988
7.
A founder COL4A3 pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series.
Front Med (Lausanne)
; 10: 1281049, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38188341
8.
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly.
Clin Dysmorphol
; 32(3): 97-105, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195326
9.
Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease.
SAGE Open Med Case Rep
; 11: 2050313X231177163, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37274939
10.
Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.
Respir Med Case Rep
; 40: 101750, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36238659
11.
First case report of Nager syndrome patient from Georgia.
SAGE Open Med Case Rep
; 10: 2050313X221144219, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36530372
12.
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Eur J Hum Genet
; 30(9): 1029-1035, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35614200
13.
Neuroendocrine pancreatic tumor in a patient with dual diagnosis of tuberous sclerosis complex and basement membrane disease: A case report and review of the literature.
Radiol Case Rep
; 16(11): 3581-3588, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34584596