Detalhe da pesquisa
1.
Identification of an NF1 Microdeletion with Optical Genome Mapping.
Int J Mol Sci
; 24(17)2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686382
2.
Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.
BMC Pediatr
; 21(1): 331, 2021 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34325699
3.
What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature.
BMC Pediatr
; 20(1): 17, 2020 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31931754
4.
Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease.
J Inherit Metab Dis
; 42(3): 527-533, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746723
5.
Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations.
BMC Med Genet
; 19(1): 113, 2018 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986653
6.
[Examination of sex chromosome abnormalities in childhood]. / Nemi kromoszóma-rendellenességek vizsgálata gyermekkorban.
Orv Hetil
; 159(27): 1121-1128, 2018 Jul.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29961370
7.
[Trisomy 9p and clinical heterogeneity: case report of an unusual presentation]. / 9p triszómia és a klinikai sokszínuség: egy váratlan megjelenésu eset ismertetése.
Orv Hetil
; 159(47): 1994-2000, 2018 Nov.
Artigo
em Húngaro
| MEDLINE | ID: mdl-30474384
8.
[Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome]. / Elsodleges genetikai vizsgálat PraderWilli-szindróma igazolására.
Orv Hetil
; 159(2): 64-69, 2018 Jan.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29307221
9.
[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia]. / Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka.
Orv Hetil
; 159(7): 269-277, 2018 Feb.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29429350
10.
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
J Pediatr
; 187: 206-212.e1, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28529015
11.
[Williams-Beuren syndrome (Williams syndrome). Case report]. / WilliamsBeuren-szindróma (Williams-szindróma).
Orv Hetil
; 158(47): 1883-1888, 2017 Nov.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29153020
12.
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
BMC Med Genet
; 17: 20, 2016 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26969265
13.
[Flow cytometry in the diagnosis of hemophagocytic lymphohistiocytosis in a case with fatal outcome]. / Az áramlási citometria jelentosége a haemophagocytás lymphohistiocytosis diagnosztikájában egy fatális kimenetelu eset bemutatása kapcsán.
Orv Hetil
; 155(10): 389-95, 2014 Mar 09.
Artigo
em Húngaro
| MEDLINE | ID: mdl-24583560
14.
Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level.
Cells
; 13(8)2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38667321
15.
A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging.
Diagnostics (Basel)
; 13(14)2023 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510112
16.
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.
Clin Epigenetics
; 15(1): 35, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859312
17.
ABCC1 polymorphisms in anthracycline-induced cardiotoxicity in childhood acute lymphoblastic leukaemia.
Cell Biol Int
; 36(1): 79-86, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21929509
18.
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes.
Mol Cytogenet
; 15(1): 19, 2022 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562807
19.
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort.
Mol Cytogenet
; 15(1): 47, 2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36320065
20.
Enhancing Molecular Testing for Effective Delivery of Actionable Gene Diagnostics.
Bioengineering (Basel)
; 9(12)2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36550951