Concepedia

Robert Śmigiel

RŚ

53

Publications

2K

Citations

25

H-Index

2001

Active since

Affiliations

Wroclaw Medical University(Current)

Medical University of Warsaw

Inserm

Poznan University of Medical Sciences

Radboud University Medical Center

Robert Śmigiel is an author at Wroclaw Medical University specializing in medicine, pathology, and genetics.

ORCID

Top concepts

Publications per year

2001–2023

53

Publications

53

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 · 214 citations

, , +20

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

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 · 102 citations · Full text

CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

Martyna Jakimiec, Justyna Paprocka, Robert Śmigiel · Brain Sciences · 2020 · 92 citations · Full text

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 · 77 citations · Full text

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