Karen Helene Ørstavik

Author

Also Known As

Hans Ro, K H Orstavik, K H Örstavik, K H Ørstavik, K Orstavik, K. H. Orstavik, K. H. ØRstavik, K. H. Ørstavik, K. Orstavik, K. Ørstavik

109

Publications

4.8K

Citations

H-Index

Concepts

All Affiliations

University of Oslo Oslo University Hospital University of Southern Denmark Odense University Hospital Haukeland University Hospital

About

Karen Helene Ørstavik is an author at University of Oslo specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	26	2.9K
2	Public Health	3	3	118
3	Education	2	2	138
4	Health Sciences	2	2	64
5	Natural Sciences	1	1	422

Karen Helene Ørstavik

Publications

3.7K

Citations

H-Index

Page 1

	Year	Citations
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderCytoskeletal ProteinGenetics	2003	426
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region James S. Sutcliffe, Mitsuyoshi Nakao, Susan L. Christian, Nature Genetics Transcriptional RegulationCpg IslandNatural SciencesGeneticsEpigenetic Change	1994	422
Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Marina Raffaele di Barletta, Enzo Ricci, Giuliana Galluzzi, The American Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsDegenerative Disease	2000	411
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis Alison Ross, Víctor L. Ruiz‐Pérez, Yiming Wang, Nature Genetics BiologyDevelopmental BiologyGenetic DisorderGeneticsMajor Locus	1998	289
RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity Dagan Jenkins, Dominik Seelow, Fernanda Sarquis Jehee, The American Journal of Human Genetics Knockout MouseDevelopmental AnomalyDevelopmental BiologyHedgehog SignalingGenetic Disorder	2007	269
Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke, The American Journal of Human Genetics Genetic DisorderGeneticsGenetic EpidemiologyPathologyPhenotypic Spectrum	2001	234
High Frequency of Skewed X-Chromosome Inactivation in Females with Autoimmune Thyroid Disease: A Possible Explanation for the Female Predisposition to Thyroid Autoimmunity Thomas Heiberg Brix, Gun Peggy Knudsen, Marianne Kristiansen, The Journal of Clinical Endocrinology & Metabolism	2005	202
15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Ørstavik, American Journal of Medical Genetics Part A Human GrowthCytogeneticsGeneticsOvergrowth SyndromeEducation	2009	128
X-linked genetic factors regulate hematopoietic stem-cell kinetics in females Kaare Christensen, Marianne Kristiansen, Heidi Hagen-Larsen, Blood	2000	125
Twin study of genetic and aging effects on X chromosome inactivation Marianne Kristiansen, Gun Peggy Knudsen, Lise Bathum, European Journal of Human Genetics ChromatinGenome InstabilityDevelopmental BiologyGenetic DisorderGenetics	2005	115

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