Concepedia

Anna Kutkowska‐Kaźmierczak

AK

Statistics

Publications

22

Citations

726

H-Index

15

Active since

2004

Affiliations

Medical University of Warsaw(Current)

Wroclaw Medical University

Children's Memorial Health Institute

Mother and Child Foundation

Baylor College of Medicine

Anna Kutkowska‐Kaźmierczak is an author at Medical University of Warsaw specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

2004–2023

22

Publications

22

Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Miriam Schmidts, Heleen H. Arts, Ernie M.H.F. Bongers et al. · Journal of Medical Genetics · 2013 · 145 citations · Full text

, , +15

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 109 citations · Full text

, , +17

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

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Alicia Delicado, Elena Mansilla, María Torres et al. · The American Journal of Human Genetics · 2011 · 48 citations · Full text

, , +16

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Magdalena Bartnik, Beata Nowakowska, Katarzyna Derwińska et al. · Journal of Applied Genetics · 2013 · 44 citations · Full text

, , +17

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