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Research Interests

Papers共 15 篇Author StatisticsCo-AuthorSimilar Experts

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期刊级别
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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,
JOURNAL OF CLINICAL INVESTIGATIONno. 2 (2024)
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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,
AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2021）
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5
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Chronic pancreatitis with polycystic kidney disease: A rare coincidence
Gabriela Hrckova, Eszter Hegyi, Katarina Skalicka, Iveta Cierna, Tomas Dallos, Denisa Ilencikova
NEFROLOGIA（2020）
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Author Statistics

#Papers: 12

#Citation: 141

H-Index: 6

G-Index: 8

Sociability: 4

Diversity: 2

Activity: 6

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