Search details
1.
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Am J Med Genet A
; 191(9): 2428-2432, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37462082
2.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
; 191(1): 135-143, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36271811
3.
Clinical and genetic characteristics of craniosynostosis in Hungary.
Am J Med Genet A
; 167A(12): 2985-91, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26289989
4.
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
Am J Med Genet A
; 164A(12): 3176-9, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25251565
5.
[Clinical and genetic characteristics of craniosynostosis]. / A craniosynostosis klinikai és genetikai jellemzoi.
Orv Hetil
; 155(9): 341-7, 2014 Mar 02.
Article
in Hungarian
| MEDLINE | ID: mdl-24566698
6.
[Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)]. / Ritka genetikai betegségek klinikai és genetikai diagnosztikájában szerzett tapasztalataink a kelet-magyarországi régióban (2007-2013).
Orv Hetil
; 155(9): 348-57, 2014 Mar 02.
Article
in Hungarian
| MEDLINE | ID: mdl-24566699
7.
Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.
Am J Med Genet A
; 161A(10): 2641-4, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23949953
8.
Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study.
Genes (Basel)
; 13(11)2022 11 10.
Article
in English
| MEDLINE | ID: mdl-36360324
9.
MED13L-related intellectual disability due to paternal germinal mosaicism.
Cold Spring Harb Mol Case Stud
; 8(1)2022 01.
Article
in English
| MEDLINE | ID: mdl-34654706
10.
[Genetic revision of the Hungarian Cystic Fibrosis Registry]. / A magyar Cystás Fibrosis Regiszter genetikai revíziója.
Orv Hetil
; 163(51): 2052-2059, 2022 Dec 18.
Article
in Hungarian
| MEDLINE | ID: mdl-36528828
11.
Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.
Genes (Basel)
; 13(12)2022 12 15.
Article
in English
| MEDLINE | ID: mdl-36553633
12.
New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics
; 12(4): 273-82, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-21965147
13.
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging.
Am J Med Genet A
; 155A(3): 634-7, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21344633
14.
[Detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation]. / Szubtelomerikus kromoszómaátrendezodések kimutatása idiopathiás mentális retardációban.
Orv Hetil
; 151(27): 1091-8, 2010 Jul 04.
Article
in Hungarian
| MEDLINE | ID: mdl-20558358
15.
22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum.
Mol Syndromol
; 11(3): 146-152, 2020 Jul.
Article
in English
| MEDLINE | ID: mdl-32903739
16.
[Expression of ZEBRA protein of Epstein-Barr virus in Hungarian patients with Hodgkin lymphoma: latent or lytic cycle?]. / Az Epstein-Barr-vírus ZEBRA fehérjéjének expressziója magyarországi Hodgkin-lymphomás betegekben: latens vagy litikus ciklus?
Orv Hetil
; 147(33): 1539-44, 2006 Aug 20.
Article
in Hungarian
| MEDLINE | ID: mdl-17037676
17.
[Association of Hodgkin lymphoma with Epstein-Barr virus in Hungary]. / Hodgkin-lymphomfás betegek Epstein-Barr-virus-asszociációjának vizsgálata.
Orv Hetil
; 146(30): 1575-82, 2005 Jul 24.
Article
in Hungarian
| MEDLINE | ID: mdl-16136734
18.
Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.
J Child Neurol
; 27(12): 1534-40, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-22408144
19.
Jumping translocation of chromosome 1q associated with good clinical outcome in a case of Burkitt leukemia.
Cancer Genet
; 204(4): 207-10, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21536239
20.
Association between the Epstein-Barr virus and Hodgkin's lymphoma in the North-Eastern part of Hungary: effects on therapy and survival.
Acta Haematol
; 116(2): 101-7, 2006.
Article
in English
| MEDLINE | ID: mdl-16914904