Detalhe da pesquisa
1.
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
2.
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
3.
[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
em Húngaro
| MEDLINE | ID: mdl-26522857
4.
Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype.
Cytogenet Genome Res
; 144(3): 190-5, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25531548
5.
[Attention deficit hyperactivity disorder analyzed with array comparative genome hybridization method. Case report]. / Figyelemhiányos hiperaktivitásban szenvedo beteg vizsgálata array komparatív genomhibridizációs módszerrel.
Orv Hetil
; 155(40): 1598-601, 2014 Oct 05.
Artigo
em Húngaro
| MEDLINE | ID: mdl-25261991
6.
[Identifying rare genomic disorders with array comparative genomic hybridization in Hungary]. / Ritka genomikai betegségek azonosítása array komparatív genomhibridizációs módszerrel - elsoként Magyarországon.
Orv Hetil
; 155(9): 358-61, 2014 Mar 02.
Artigo
em Húngaro
| MEDLINE | ID: mdl-24566700
7.
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
em Inglês
| MEDLINE | ID: mdl-37064343
8.
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
9.
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
10.
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.
Seizure
; 74: 8-13, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31765958
11.
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.
Clin Dysmorphol
; 28(3): 137-141, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30789376
12.
Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data.
PLoS One
; 13(9): e0202890, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30199533
13.
Comparison of mtDNA haplogroups in Hungarians with four other European populations: a small incidence of descents with Asian origin.
Acta Biol Hung
; 58(2): 245-56, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17585514
14.
[Rapid diagnosis of fetal chromosomal abnormalities by fluorescence in situ hybridization]. / Magzati kromoszóma-rendellenességek gyors diagnosztizálása interfázis fluoreszcens in situ hibridizációval.
Orv Hetil
; 148(30): 1401-4, 2007 Jul 29.
Artigo
em Húngaro
| MEDLINE | ID: mdl-17631477
15.
[Metabolic bone disease in premature infants and genetic polymorphisms]. / Koraszülöttek csontanyagcsere-betegsége és genetikai polimorfizmusok.
Orv Hetil
; 148(41): 1957-65, 2007 Oct 14.
Artigo
em Húngaro
| MEDLINE | ID: mdl-17921123
16.
Transient progeroid phenotype and lipodystrophy in mosaic polyploidy.
Clin Dysmorphol
; 15(1): 29-31, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16317304
17.
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.
Mol Cytogenet
; 9: 22, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26918030
18.
A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis.
Diagn Mol Pathol
; 14(3): 159-63, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16106197
19.
[The first genetically supported case of chronic benign pemphigus (Hailey-Hailey disease in Hungary]. / Az elso, genetikai vizsgálattal is alátámasztott chronicus benignus pemphigus (Hailey-Hailey-betegség) esete Magyarországon.
Orv Hetil
; 146(37): 1933-5, 2005 Sep 11.
Artigo
em Húngaro
| MEDLINE | ID: mdl-16255378
20.
Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.
Mol Cytogenet
; 8: 41, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110020