Publications by authors named "Markus Zweier"

21Publications

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

Eur J Med Genet 2017 Sep 21;60(9):451-464. Epub 2017 Jun 21.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.06.004DOI Listing
September 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

Confirmation of mutations in as a novel cause of vitamin B -dependent epilepsy.

J Med Genet 2017 12 8;54(12):809-814. Epub 2017 Apr 8.

radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich", University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1136/jmedgenet-2017-104521DOI Listing
December 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Am J Med Genet A 2013 Nov 3;161A(11):2880-9. Epub 2013 Oct 3.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36250DOI Listing
November 2013