Concepedia

Monika Kugaudo

MK

6

Publications

147

Citations

6

H-Index

2010

Active since

Affiliations

Children's Memorial Health Institute(Current)

Medical University of Warsaw

Wroclaw Medical University

Monika Kugaudo is an author at Children's Memorial Health Institute specializing in medicine, genetics, and molecular genetics.

Top concepts

MedicineGeneticsPathologyMolecular GeneticsGenomicsMosaicismCardiologyDermatologyClinical GeneticsGenetic Variation

Publications per year

2010–2021

6

Publications

6

A novel <i>IGF2/H19</i> domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

Dorota Jurkiewicz, Monika Kugaudo, Agata Skórka et al. · American Journal of Medical Genetics Part A · 2016 · 47 citations

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Dorota Jurkiewicz, Dorota Gliwicz, Elżbieta Ciara et al. · Journal of Applied Genetics · 2014 · 33 citations · Full text

Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency

Anna Hogendorf, Maciej Zieliński, Maria Constantinou et al. · Frontiers in Immunology · 2021 · 21 citations · Full text

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

Markus Draaken, Carmen A. Giesen, Anne Kesselheim et al. · Human Genetics · 2011 · 19 citations

Lowe Syndrome Family, Allelic Variant, Genetic Disorder +10

Four novel RSK2 mutations in females with Coffin–Lowry syndrome

Dorota Jurkiewicz, Aleksandra Jezela‐Stanek, Elżbieta Ciara et al. · European Journal of Medical Genetics · 2010 · 15 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

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