Concepedia

Robert Śmigiel

RŚ

Statistics

Publications

56

Citations

2.1K

H-Index

26

Active since

2001

Affiliations

Wroclaw Medical University(Current)

Medical University of Warsaw

Inserm

Radboud University Medical Center

Radboud University Nijmegen

Robert Śmigiel is an author at Wroclaw Medical University specializing in genetics, life sciences, and genetic disorders.

ORCID

Publications per year

2001–2023

56

Publications

56

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

, , +17

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 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

CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

Martyna Jakimiec, Justyna Paprocka, Robert Śmigiel · Brain Sciences · 2020 · 98 citations · Full text

, , +10

iPSC-derived myelinoids to study myelin biology of humans

Owen G. James, Bhuvaneish T. Selvaraj, Dario Magnani et al. · Developmental Cell · 2021 · 87 citations · Full text

, , +15

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