Detalhe da pesquisa
1.
New candidate region for mirror hand movements: two patients with terminal 9p deletion and 20p duplication.
Mol Biol Rep
; 51(1): 243, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38300327
2.
Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.
J Hum Genet
; 66(3): 315-320, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33093640
3.
A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
J Pediatr Hematol Oncol
; 40(8): e547-e549, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29620677
4.
Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the KIFBP Gene.
Mol Syndromol
; 12(4): 240-243, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34421502
5.
Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease.
Eur J Med Genet
; 64(11): 104343, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34530144