Publications by authors named "Eva Holmberg"

19Publications

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

Speech and voice range profiles of adults with untrained normal voices: methodological implications.

Logoped Phoniatr Vocol 2014 Jul 16;39(2):62-71. Epub 2013 Apr 16.

Department of Human Communication Sciences, Faculty of Health Sciences, La Trobe University , Victoria , Australia.

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http://dx.doi.org/10.3109/14015439.2013.777109DOI Listing
July 2014

Voice and speech range profiles and Voice Handicap Index for males--methodological issues and data.

Logoped Phoniatr Vocol 2012 Jul 5;37(2):47-61. Epub 2011 Sep 5.

Department of Clinical Science Intervention and Technology (CLINTEC), Division of Speech Language Pathology, Karolinska Institutet, Karolinska University Hospital, Huddinge, B69, S-141 86, Stockholm, Sweden.

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http://dx.doi.org/10.3109/14015439.2011.607469DOI Listing
July 2012

Phonetograms, aerodynamic measurements, self-evaluations, and auditory perceptual ratings of male-to-female transsexual voice.

J Voice 2010 Sep 18;24(5):511-22. Epub 2009 Sep 18.

Clinical Science, Intervention, and Technology-CLINTEC, Division of Logopedics and Phoniatrics, Karolinska Institute, Stockholm, Sweden.

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http://linkinghub.elsevier.com/retrieve/pii/S089219970900022
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http://dx.doi.org/10.1016/j.jvoice.2009.02.002DOI Listing
September 2010

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

Am J Med Genet B Neuropsychiatr Genet 2009 Oct;150B(7):984-92

Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University and University Hospital, Uppsala, Sweden.

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http://doi.wiley.com/10.1002/ajmg.b.30928
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http://dx.doi.org/10.1002/ajmg.b.30928DOI Listing
October 2009

Phonetograms as a tool in the voice clinic: changes across voice therapy for patients with vocal fatigue.

Logoped Phoniatr Vocol 2007 ;32(3):113-27

Karolinska Institute, CLINTEC, Department of Speech & Language Pathology, Karolinska University Hospital, Huddinge, Stockholm, Sweden.

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http://www.tandfonline.com/doi/full/10.1080/1401543070166163
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http://dx.doi.org/10.1080/14015430701661632DOI Listing
February 2008

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.

Neuromuscul Disord 2006 Dec 17;16(12):830-8. Epub 2006 Oct 17.

Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2006.08.011DOI Listing
December 2006

Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.

Genet Test 2004 ;8(3):248-56

Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital/Ostra, Göteborg, Sweden.

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http://dx.doi.org/10.1089/gte.2004.8.248DOI Listing
April 2005

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.

Eur J Pediatr 2005 Feb 19;164(2):99-103. Epub 2004 Nov 19.

Department of Paediatrics, Sahlgrenska University Hospital/Ostra, 41685 Göteborg, Sweden.

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http://dx.doi.org/10.1007/s00431-004-1570-2DOI Listing
February 2005

Aerodynamic and acoustic voice measurements of patients with vocal nodules: variation in baseline and changes across voice therapy.

J Voice 2003 Sep;17(3):269-82

Karolinska Institute, Department of Logopedics and Phoniatrics, Huddinge University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1067/s0892-1997(03)00076-6DOI Listing
September 2003