Concepedia

Emil Simeonov

ES

Statistics

Publications

7

Citations

183

H-Index

7

Active since

2005

Affiliations

Medical University of Sofia(Current)

Alexandrovska Hospital

University Hospital St. Ivan Rilski

Emil Simeonov is an author at Medical University of Sofia specializing in genetics, molecular genetics, and life sciences.

ORCID

Publications per year

2005–2018

7

Publications

7

Autosomal dominant inheritance of Williams???Beuren syndrome in a father and son with haploinsufficiency for FKBP6

Kay Metcalfe, Emil Simeonov, William S. Beckett et al. · Clinical Dysmorphology · 2005 · 62 citations

, , +17

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

M. J. Valstar, Aida M. Bertoli‐Avella, Marja W. Wessels et al. · Human Mutation · 2010 · 46 citations · Full text

, , +16

Hypertrichosis in patients with <i>SURF1</i> mutations

Elsebet Østergaard, Irena Bradinova, Susanne Holst Ravn et al. · American Journal of Medical Genetics Part A · 2005 · 22 citations

, , +9

Mitochondrial DNA Mutations in two Bulgarian Children with Autistic Spectrum Disorders

Daniela Avdjieva-Tzavella, Snezhina Mihailova, Elissaveta Naumova et al. · Balkan Journal of Medical Genetics · 2012 · 16 citations · Full text

, , +13

Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability

Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova et al. · Gene · 2018 · 16 citations

, , +16

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