Publications by authors named "Eva Holmberg"

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Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Malin Kvarnung, Fulya Taylan, Daniel Nilsson, Britt-Marie Anderlid, Helena Malmgren, Eva Holmberg

Clin Genet· December 2018

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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Ivan K Chinn, Eva Holmberg

J Allergy Clin Immunol· January 2017

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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Michaela Yuen, Sarah A Sandaradura, James J Dowling, Alla S Kostyukova, Natalia Moroz, Eva Holmberg

J Clin Invest· January 2015

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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Michaela Yuen, Sarah A Sandaradura, James J Dowling, Alla S Kostyukova, Natalia Moroz, Eva Holmberg

J Clin Invest· November 2014

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Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Denny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, Marie-Ange Delrue, Anne Dieux-Coeslier, Eva E Holmberg

Hum Mutat· September 2014

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Speech and voice range profiles of adults with untrained normal voices: methodological implications.
Katherine Sanchez, Jennifer Oates, Georgia Dacakis, Eva B Holmberg

Logoped Phoniatr Vocol· July 2014

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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg

Orphanet J Rare Dis· May 2013

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Voice and speech range profiles and Voice Handicap Index for males--methodological issues and data.
Anna Eva Hallin, Karin Fröst, Eva B Holmberg, Maria Södersten

Logoped Phoniatr Vocol· July 2012

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Phenotype and natural history in Marshall-Smith syndrome.
Adam C Shaw, Inge D C van Balkom, Mislen Bauer, Trevor R P Cole, Marie-Ange Delrue, Eva Holmberg

Am J Med Genet A· November 2010

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Phonetograms, aerodynamic measurements, self-evaluations, and auditory perceptual ratings of male-to-female transsexual voice.
Eva B Holmberg, Jennifer Oates, Georgia Dacakis, Cameron Grant

J Voice· September 2010

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Marielle Alders, Benjamin M Hogan, Evisa Gjini, Faranak Salehi, Lihadh Al-Gazali, Eva E Holmberg

Nat Genet· December 2009

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SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
Hanna Orlén, Atle Melberg, Raili Raininko, Eva Kumlien, Miriam Entesarian, Eva Holmberg

Am J Med Genet B Neuropsychiatr Genet· October 2009

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A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.
Miriam Entesarian, Birgit Carlsson, Mahmoud Reza Mansouri, Eva-Lena Stattin, Eva Holmberg

Am J Med Genet A· March 2009

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Phonetograms as a tool in the voice clinic: changes across voice therapy for patients with vocal fatigue.
Eva B Holmberg, Eva Ihre, Maria Södersten

Logoped Phoniatr Vocol· February 2008

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Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
Eva L Arkblad, Niklas Darin, Kerstin Berg, Eva Kimber, Göran Brandberg, Eva Holmberg

Neuromuscul Disord· December 2006

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Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.
Johan Meuller, Gunilla Kanter-Smoler, Anders O H Nygren, Abdellatif Errami, Henrik Grönberg, Eva Holmberg

Genet Test· April 2005

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Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.
Jacqueline Schoumans, Ann Nordgren, Claudia Ruivenkamp, Karen Brøndum-Nielsen, Bin Tean Teh, Eva Holmberg

Eur J Hum Genet· February 2005

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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.
Már Tulinius, Niklas Darin, Lars-Martin Wiklund, Eva Holmberg, Jan Erik Eriksson

Eur J Pediatr· February 2005

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Aerodynamic and acoustic voice measurements of patients with vocal nodules: variation in baseline and changes across voice therapy.
Eva B Holmberg, Patricia Doyle, Joseph S Perkell, Britta Hammarberg, Robert E Hillman

J Voice· September 2003

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