Publications by authors named "Ketil R Heimdal"

9Publications

Epidemiology of craniosynostosis in Norway.

J Neurosurg Pediatr 2020 Apr 3:1-8. Epub 2020 Apr 3.

Departments of2Medical Genetics and.

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http://dx.doi.org/10.3171/2020.1.PEDS2051DOI Listing
April 2020

Abnormally wide eustachian tubes involving the sphenoid bone: A collection.

Laryngoscope Investig Otolaryngol 2018 Jun 25;3(3):214-217. Epub 2018 Apr 25.

Department of Radiology and Nuclear Medicine, Oslo University Hospital Oslo Norway.

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http://doi.wiley.com/10.1002/lio2.158
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http://dx.doi.org/10.1002/lio2.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057216PMC
June 2018

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Two male sibs with severe micrognathia and a missense variant in MED12.

Eur J Med Genet 2016 Aug 7;59(8):367-72. Epub 2016 Jun 7.

Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Norwegian National Unit for Newborn Screening, Oslo University Hospital, 0424, Oslo, Norway.

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http://dx.doi.org/10.1016/j.ejmg.2016.06.001DOI Listing
August 2016

Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families.

Cancer Med 2015 Jul 17;4(7):1069-78. Epub 2015 Apr 17.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, 20892-9769.

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http://dx.doi.org/10.1002/cam4.450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529345PMC
July 2015

Germline PTEN mutations are rare and highly penetrant.

Hered Cancer Clin Pract 2006 Dec 15;4(4):177-85. Epub 2006 Dec 15.

Section for Inherited Cancer, Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway.

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http://dx.doi.org/10.1186/1897-4287-4-4-177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2837306PMC
December 2006