Gabriela Hrckova - National Institute of Children's Diseases Bratislava

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个人简介

Gabriela works at the Department of Pediatrics, Medical Genetics Division, Comenius University in Bratislava and National Institute of Children's Diseases.

研究兴趣

论文共 16 篇作者统计合作学者相似作者

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Biallelic Cys141Tyr Variant of SEL1L is Associated with Neurodevelopmental Disorders, Agammaglobulinemia, and Premature Death

Denisa Weis,Liangguang L. Lin,Huilun H. Wang,Zexin Jason Li,Katarina Kusikova,Peter Ciznar,Hermann M. Wolf,Alexander Leiss-Piller, Zhihong Wang,Xiaoqiong Wei,Serge Weis,Katarina Skalicka,Gabriela Hrckova,Lubos Danisovic,Andrea Soltysova, Tingxuan T. Yang,Rene Gunther Feichtinger,Johannes A. Mayr,Ling Qi

JOURNAL OF CLINICAL INVESTIGATIONno. 2 (2024)

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Re-Evaluation of Diagnosis Glycogen Storage Disease Type 1b Based on Familiar Co-Segregation Analysis and Whole Exome Sequencing Result

Vladimir Bzduch,Katarina Skalicka,Gabriela Hrckova

JSM Genetics & Genomicsno. 1 (2023): 1-2

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Kidney Concentrating Capacity in Children with Autosomal Recessive Polycystic Kidney Disease is Linked to Glomerular Filtration and Hypertension

Tomáš Seeman,Kveta Bláhová,Filip Fencl,Richard Klaus,Bärbel Lange-Sperandio,Gabriela Hrčková,Ĺudmila Podracká

Pediatric Nephrology（2022）

引用1浏览0WOS引用

Rare Diseases and the Orphanet

Gabriela Hrčková

Neurologie pro praxino. 2 (2021): 93-99

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Polycystic Kidneys in Childhood - a Wide Range of Overlapping Diseases

Lucia Oravcová,Katarína Skalická,Gabriela Hrčková,Ľudmila Podracká

Urologie pro praxino. 4 (2021): 160-165

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Tetrasomy 18p in one non-identical twin born to healthy parents: A case report

Miroslav Tomka,Gabriela Hrckova, Dagmar Landlova, Vladimira Verchovodkova, Alena Zakovicova, Michaela Patakova Zrubcova,Erika Tomkova,Denisa Ilencikova,Andrea Pastorakova,Renata Lukackova

Meta Gene（2021）

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A Novel Homozygous Mutation in the Human ALG12 Gene Results in an Aberrant Profile of Oligomannose N-glycans in Patient's Serum

Jana Ziburova,Marek Nemcovic,Sergej Sestak,Jana Bellova,Zuzana Pakanova,Barbara Sivakova,Anna Salingova,Claudia Sebova,Maria Ostrozlikova, Dimitra-Evanthia Lekka,Jana Brucknerova,Ingrid Brucknerova, Martina Skoknova, Alexandra Mc Cullough,Gabriela Hrckova,Anna Hlavata,Vladimir Bzduch,Jan Mucha,Peter Barath

American journal of medical genetics Part A（2021）

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Polycystické Obličky V Detskom Veku - Široké Spektrum Prekrývajúcich Sa Ochorení

Lucia Oravcová,Katarína Skalická,Gabriela Hrčková, Ľ. Podracká

semanticscholar（2021）

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Myhre Syndrome Associated with Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report

Zofia Varenyiova,Gabriela Hrckova,Denisa Ilencikova,Ludmila Podracka

Frontiers in pediatrics（2020）

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Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum

M. -L. Lovgren,Y. Zhou,G. Hrckova,T. Dallos,I. Colmenero,S. R. F. Twigg,C. Moss

BRITISH JOURNAL OF DERMATOLOGY（2020）

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