Detalhe da pesquisa
1.
Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor.
Neuropediatrics
; 54(5): 344-346, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37263295
2.
Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis.
Pathol Oncol Res
; 30: 1611768, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38807857
3.
Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study.
Front Psychol
; 14: 1115304, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36925595
4.
[Neurofibromatosis-1 microdeletion syndrome.] / Neurofibromatosis-1 microdeletiós szindróma.
Orv Hetil
; 163(51): 2041-2051, 2022 Dec 18.
Artigo
em Húngaro
| MEDLINE | ID: mdl-36528827
5.
TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.
Eur J Med Genet
; 65(4): 104471, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240325
6.
Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.
Front Genet
; 12: 635458, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33936165
7.
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions.
Front Genet
; 12: 673025, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34168676
8.
Gene testing in Treacher Collins syndrome / Génvizsgálat Treacher Collins-szindrómában
Orv Hetil
; 161(52): 2201-2205, 2020 12 27.
Artigo
em Húngaro
| MEDLINE | ID: mdl-33361506