Detalhe da pesquisa
1.
Characterization of Danube Swabian population samples on a high-resolution genome-wide basis.
BMC Genomics
; 24(1): 9, 2023 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36624381
2.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
3.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain
; 145(2): 596-606, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515763
4.
Parallel palaeogenomic transects reveal complex genetic history of early European farmers.
Nature
; 551(7680): 368-372, 2017 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29144465
5.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain
; 143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875335
6.
Investigating the genetic characteristics of the Csangos, a traditionally Hungarian speaking ethnic group residing in Romania.
J Hum Genet
; 65(12): 1093-1103, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32653894
7.
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
em Inglês
| MEDLINE | ID: mdl-32446860
8.
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Mov Disord
; 34(8): 1220-1227, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31211461
9.
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
em Inglês
| MEDLINE | ID: mdl-31590400
10.
Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.
Am J Med Genet A
; 176(2): 443-449, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29226546
11.
Correction to: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
BMC Med Genet
; 18(1): 150, 2017 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29248012
12.
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
BMC Med Genet
; 18(1): 105, 2017 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28927399
13.
Refining the South Asian Origin of the Romani people.
BMC Genet
; 18(1): 82, 2017 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28859608
14.
[A8344G mitochondrial DNA mutation observed in two generations]. / Két generációban megfigyelheto mitokondriális DNS A8344G mutáció.
Orv Hetil
; 158(12): 468-471, 2017 Mar.
Artigo
em Húngaro
| MEDLINE | ID: mdl-28328248
15.
[Neuroacanthocytosis diagnosis with new generation whole exome sequencing]. / Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással.
Orv Hetil
; 158(42): 1681-1684, 2017 Oct.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29037056
16.
[Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases]. / A nagyobb méretu géndeletiók jelentosége a sclerosis tuberosa diagnosztikájában: az elso magyar esetek bemutatása.
Orv Hetil
; 158(30): 1188-1194, 2017 Jul.
Artigo
em Húngaro
| MEDLINE | ID: mdl-28737457
17.
[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm]. / Rhabdomyolysis Mikor vessük fel metabolikus myopathia lehetoségét? Esetismertetés és diagnosztikus algoritmus.
Orv Hetil
; 158(47): 1873-1882, 2017 Nov.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29153022
18.
[DISEASE BURDEN OP DUCHENNE MUSCULAR DYSTROPHY PATIENTS AND THEIR CAREGIVERS]. / DUCHENNE-FÉLE IZOMDISZTRÓFIÁVAL ÉLO BETEGEK ÉS GONDOZÓIK BETEGSÉGTERHEI.
Ideggyogy Sz
; 69(5-6): 183-93, 2016 Mar 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-27468608
19.
Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.
Mol Genet Metab
; 116(4): 223-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26596705
20.
Marked differences in frequencies of statin therapy relevant SLCO1B1 variants and haplotypes between Roma and Hungarian populations.
BMC Genet
; 16: 108, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334733