Concepedia

Anna Walczak

AW

Statistics

Publications

15

Citations

522

H-Index

13

Active since

2014

Affiliations

Medical University of Warsaw(Current)

Wroclaw Medical University

Institute of Physiology and Pathology of Hearing

Postgraduate School of Molecular Medicine

University of Warsaw

Anna Walczak is an author at Medical University of Warsaw specializing in genetics, neurogenetic disorders, and genetic disorders.

ORCID

Publications per year

2014–2023

15

Publications

15

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Robert Śmigiel, Mateusz Biela, Krzysztof Szmyd et al. · Journal of Clinical Medicine · 2020 · 79 citations · Full text

, , +17

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

Guy M. Lenk, Krystyna Szymańska, Grażyna Dębska–Vielhaber et al. · The American Journal of Human Genetics · 2016 · 63 citations · Full text

, , +11

Dominant <i>ELOVL1</i> mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Anna Kutkowska‐Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski et al. · Journal of Medical Genetics · 2018 · 58 citations

, , +17

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with <i><scp>AIFM1</scp></i> mutation – a novel phenotype of the mitochondrial disease

Hanna Mierzewska, Małgorzata Rydzanicz, Tadeusz Biegański et al. · Clinical Genetics · 2016 · 51 citations

, , +17

Evidence for <i>HNRNPH1</i> being another gene for Bain type syndromic mental retardation

Jacek Pilch, Agnieszka Koppolu, Anna Walczak et al. · Clinical Genetics · 2018 · 48 citations

, , +17

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