Concepedia

Doriana Misceo

DM

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Publications

44

Citations

2.3K

H-Index

26

Active since

2001

Affiliations

University of Oslo(Current)

Oslo University Hospital

University of Bari Aldo Moro

Radboud University Medical Center

Radboud University Nijmegen

Doriana Misceo is an author at University of Oslo specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

2001–2022

44

Publications

44

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 202 citations · Full text

A Dominant STIM1 Mutation Causes Stormorken Syndrome

Doriana Misceo, Asbjørn Holmgren, William E. Louch et al. · Human Mutation · 2014 · 175 citations

Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22

Jeffrey A. Bailey, Amy M. Yavor, Luigi Viggiano et al. · The American Journal of Human Genetics · 2002 · 170 citations · Full text

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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain et al. · The American Journal of Human Genetics · 2017 · 159 citations · Full text

Recurrent Sites for New Centromere Seeding

Mario Ventura, Stefania Weigl, Lucia Carbone et al. · Genome Research · 2004 · 151 citations · Full text

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