Concepedia

Author

Monika Kugaudo

Children's Memorial Health Institute

Also Known As

M Kugaudo, Monika Kugaudo

19

Publications

216

Citations

8

H-Index

14

Concepts

All Affiliations

Children's Memorial Health InstituteMedical University of WarsawWroclaw Medical University
MK

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

3

3

46

2

Molecular Genetics

2

2

34

3

Pathology

2

2

27

4

Molecular Biology

1

1

19

5

Cardiovascular Genetics

1

1

12

Monika Kugaudo

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6

Publications

147

Citations

6

H-Index

YearCitations

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,

American Journal of Medical Genetics Part A

2016

47

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Dorota Jurkiewicz, Dorota Gliwicz, Elżbieta Ciara,

Journal of Applied Genetics

2014

33

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

Anna Hogendorf, Maciej Zieliński, Maria Constantinou,

Frontiers in Immunology

2021

21

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

Markus Draaken, Carmen A. Giesen, Anne Kesselheim,

Human Genetics

2011

19

Four novel RSK2 mutations in females with Coffin–Lowry syndrome

Dorota Jurkiewicz, Aleksandra Jezela‐Stanek, Elżbieta Ciara,

European Journal of Medical Genetics

2010

15

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF gene

Elżbieta Ciara, Magdalena Pelc, Dorota Jurkiewicz,

European Journal of Medical Genetics

2014

12

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