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
Inglês
| MEDLINE | ID: mdl-37263295
2.
Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma.
Int J Mol Sci
; 24(16)2023 Aug 17.
Artigo
Inglês
| MEDLINE | ID: mdl-37629066
3.
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
Exp Mol Pathol
; 115: 104471, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32446860
4.
Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients.
Int J Mol Sci
; 20(19)2019 Oct 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31590400
5.
[A8344G mitochondrial DNA mutation observed in two generations]. / Két generációban megfigyelheto mitokondriális DNS A8344G mutáció.
Orv Hetil
; 158(12): 468-471, 2017 Mar.
Artigo
Húngaro
| MEDLINE | ID: mdl-28328248
6.
[Catch-22? Wide variety of phenotypes associated with the chromosome 22q11 deletion syndrome in two patients]. / A 22-es csapdája? A 22q11 kromoszóma deletiós szindróma változatos klinikai megjelenése két eset kapcsán.
Orv Hetil
; 156(45): 1834-8, 2015 Nov 08.
Artigo
Húngaro
| MEDLINE | ID: mdl-26522857
7.
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly.
Mol Genet Metab Rep
; 38: 101056, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38469100
8.
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
Inglês
| MEDLINE | ID: mdl-38807857
9.
Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate.
Mol Syndromol
; 14(2): 109-122, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37064343
10.
Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study.
Front Psychol
; 14: 1115304, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36925595
11.
[Neurofibromatosis-1 microdeletion syndrome.] / Neurofibromatosis-1 microdeletiós szindróma.
Orv Hetil
; 163(51): 2041-2051, 2022 Dec 18.
Artigo
Húngaro
| MEDLINE | ID: mdl-36528827
12.
Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.
Front Genet
; 12: 635458, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33936165
13.
Gene testing in Treacher Collins syndrome / Génvizsgálat Treacher Collins-szindrómában
Orv Hetil
; 161(52): 2201-2205, 2020 12 27.
Artigo
Húngaro
| MEDLINE | ID: mdl-33361506
14.
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.
Seizure
; 74: 8-13, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31765958
15.
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.
Eur J Med Genet
; 63(2): 103655, 2020 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-31034989
16.
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.
Clin Dysmorphol
; 28(3): 137-141, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-30789376
17.
[MECP2 mutation in a male patient identified in the background of severe epileptic encephalopathy]. / Súlyos epilepsziás encephalopathia hátterében azonosított MECP2-gén-mutáció fiúbetegben.
Orv Hetil
; 160(51): 2036-2039, 2019 Dec.
Artigo
Húngaro
| MEDLINE | ID: mdl-31838863
18.
[A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy]. / Generalizált epilepszia hátterében azonosított ioncsatorna-génmutáció ritka formája.
Orv Hetil
; 160(21): 835-838, 2019 May.
Artigo
Húngaro
| MEDLINE | ID: mdl-31104500
19.
[Ganciclovir treatment of congenital cytomegalovirus infection]. / Ujszülöttkori cytomegalovirus-fertozés kezelése ganciclovirrel.
Orv Hetil
; 147(13): 609-12, 2006 Apr 02.
Artigo
Húngaro
| MEDLINE | ID: mdl-16623443