Concepedia

Karin Writzl

KW

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Publications

19

Citations

1.2K

H-Index

18

Active since

2005

Affiliations

Ljubljana University Medical Centre(Current)

University Children's Hospital, Belgrade

University of Belgrade

Istituti di Ricovero e Cura a Carattere Scientifico

University College London

Karin Writzl is an author at Ljubljana University Medical Centre specializing in medicine, genetics, and neurology.

ORCID

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Publications per year

2005–2023

19

Publications

19

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Yasmin Namavar, P. G. Barth, Paul R. Kasher et al. · Brain · 2010 · 222 citations · Full text

Clinical spectrum of <i>SCN2A</i> mutations expanding to Ohtahara syndrome

Kazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka et al. · Neurology · 2013 · 196 citations

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

Francesca Forzano, Olga Antonova, Angus Clarke et al. · European Journal of Human Genetics · 2021 · 88 citations · Full text

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Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome

Saskia M. Maas, Maria Lombardi, A. J. van Essen et al. · Journal of Medical Genetics · 2009 · 84 citations · Full text

Improving diagnostics of rare genetic diseases with NGS approaches

Mateja Vinkšel, Karin Writzl, Aleš Maver et al. · Journal of Community Genetics · 2021 · 74 citations · Full text

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