Per M. Knappskog - Concepedia

Author

Per M. Knappskog

Also Known As

Eystein S Husebye, Knappskog, Per Morten, PER M. KNAPPSKOG, Per Knappskog, Per M Knappskog, Per M. KNAPPSKOG, Per M. Knappskog, Per M. Knappskog (161895), Per Morten Knappskog, Per M. Knappskog

165

Publications

6.3K

Citations

H-Index

101

Concepts

All Affiliations

University of Bergen Haukeland University Hospital Oslo University Hospital University of Oslo Helse Førde

About

Per M. Knappskog is an author at University of Bergen specializing in medicine, genetics, and biochemistry.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	31	1.7K
2	Natural Sciences	10	10	530
3	Social Sciences	4	4	188
4	Engineering	2	2	63
5	Public Health	1	1	16

Per M. Knappskog

Publications

5.5K

Citations

H-Index

Page 1

	Year	Citations
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases Bergithe E Oftedal, Alexander Hellesen, Martina M. Erichsen, Immunity ImmunogeneticsAutoimmune DiseaseAutoantibody ProductionGeneticsImmunology	2015	274
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, The American Journal of Human Genetics UrologyMendelian DisorderRenal InsufficiencyGenetic DisorderGenetics	2011	235
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism Torunn Fiskerstrand, Dorra H’mida-Ben Brahim, Stefan Johansson, The American Journal of Human Genetics Cannabis UseNeurodegenerative DiseasesNeurodegenerative Disease PharcGenetic DisorderGenetics	2010	232
Autoimmune Polyendocrine Syndrome Type 1 in Norway: Phenotypic Variation, Autoantibodies, and Novel Mutations in the Autoimmune Regulator Gene Anette S. B. Wolff, Martina M. Erichsen, Anthony Meager, The Journal of Clinical Endocrinology & Metabolism	2006	217
Familial Diarrhea Syndrome Caused by an Activating <i>GUCY2C</i> Mutation Torunn Fiskerstrand, Najla Arshad, Bjørn Ivar Haukanes, New England Journal of Medicine	2012	207
Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene Cecilie Bredrup, Per M. Knappskog, Jacek Majewski, Investigative Ophthalmology & Visual Science	2005	194
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing Kristoffer Haugarvoll, Stefan Johansson, Charalampos Tzoulis, Orphanet Journal of Rare Diseases	2013	180
Three-Dimensional Structure of Human Tryptophan Hydroxylase and Its Implications for the Biosynthesis of the Neurotransmitters Serotonin and Melatonin<sup>,</sup> Lin Wang, Heidi Erlandsen, Jan Haavik, Biochemistry	2002	178
Different properties of the central and peripheral forms of human tryptophan hydroxylase Jeffrey A. McKinney, Per M. Knappskog, Jan Haavik Journal of Neurochemistry BiosynthesisAldo-keto ReductaseCellular EnzymologyBiochemistryNatural Sciences	2004	166
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification Silje Rafaelsen, Helge Ræder, Anne Kristine Fagerheim, Journal of Bone and Mineral Research	2013	164

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