Concepedia

Johan Robert Helle

JR

Statistics

Publications

5

Citations

136

H-Index

5

Active since

2005

Affiliations

Oslo University Hospital(Current)

University of Oslo

Johan Robert Helle is an author at Oslo University Hospital specializing in genetics, neurodevelopmental disorders, and human genetics.

Publications per year

2005–2020

5

Publications

5

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella et al. · Genetics in Medicine · 2020 · 56 citations · Full text

, , +14

1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development

Doriana Misceo, Tuva Barøy, Johan Robert Helle et al. · Gene · 2012 · 26 citations

, , +13

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

Tuva Barøy, Doriana Misceo, Petter Strømme et al. · Orphanet Journal of Rare Diseases · 2013 · 25 citations · Full text

, , +17

Transmission of hepatitis B in Hamburg, Germany, 1998–2002: a prospective, population-based study

Roland Diel, Johan Robert Helle, René Gottschalk · Medical Microbiology and Immunology · 2005 · 16 citations

, , +10

Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without <scp><i>SOX</i></scp><i>3</i> Expression

Johan Robert Helle, Tuva Barøy, Doriana Misceo et al. · American Journal of Medical Genetics Part A · 2013 · 13 citations

, , +17

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