Detalhe da pesquisa
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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271811
3.
The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
Mol Biol Rep
; 46(5): 5595-5601, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31338750
4.
Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.
Front Immunol
; 13: 919411, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36119109
5.
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
J Hum Genet
; 56(3): 183-7, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21160487
6.
Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene.
Front Pediatr
; 9: 664548, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490154
7.
[Psychological aspects of presymptomatic diagnosis in Huntington disease]. / A Huntington-betegség preszimptómás genetikai vizsgálatát kérok pszichológiai felkészítése.
Orv Hetil
; 149(13): 609-12, 2008 Mar 30.
Artigo
em Húngaro
| MEDLINE | ID: mdl-18353742
8.
Transient progeroid phenotype and lipodystrophy in mosaic polyploidy.
Clin Dysmorphol
; 15(1): 29-31, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16317304
9.
[Novel approaches to the background of developmental abnormalities: clinical genetics of transcription factors]. / Uj lehetoségek a fejlodési rendellenességek hátterének feltárására: transzkripciós faktorok klinikai genetikája.
Orv Hetil
; 147(15): 697-702, 2006 Apr 16.
Artigo
em Húngaro
| MEDLINE | ID: mdl-16734182
10.
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia.
Clin Dysmorphol
; 12(2): 123-7, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12868476
11.
Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome.
Clin Dysmorphol
; 12(3): 161-5, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-14564152
12.
[Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome]. / Az MECP2 gén mutációinak analízise direkt szekvenálással magyarországi Rett-szindrómás betegekben.
Orv Hetil
; 145(17): 909-11, 2004 Apr 25.
Artigo
em Húngaro
| MEDLINE | ID: mdl-15170968
13.
Cardiac arrest in kearns-sayre syndrome.
JIMD Rep
; 2: 7-10, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430846
14.
Screening for CDG type Ia in Joubert syndrome.
Med Sci Monit
; 10(8): CR469-72, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15277997
15.
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.
Am J Med Genet A
; 116A(3): 272-7, 2003 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12503106
16.
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
Eur J Pediatr
; 161(11): 619-22, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12424590
17.
Infective endocarditis with hypocalcaemia and facial dymorphism in an adolescent girl.
Acta Paediatr
; 96(3): 459-60, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17407480
18.
Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients.
Am J Med Genet A
; 131(1): 106, 2004 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15389714