Jens Schallner

Jens Schallner

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Jens Schallner

Jens Schallner

Publications by authors named "Jens Schallner"

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Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Am J Med Genet A 2017 Sep 4;173(9):2545-2550. Epub 2017 Aug 4.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38348DOI Listing
September 2017

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.

Hum Mol Genet 2017 08;26(15):2923-2932

Department of Pharmacology and Toxicology Center for Molecular Biosciences, University of Innsbruck, 6020 Innsbruck, Austria.

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http://dx.doi.org/10.1093/hmg/ddx175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886262PMC
August 2017

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.

Am J Med Genet A 2015 Nov 3;167A(11):2800-7. Epub 2015 Sep 3.

Institut f, ü, r Klinische Genetik, Medizinische Fakult, ä, t Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37266DOI Listing
November 2015

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Am J Med Genet A 2013 Dec 16;161A(12):3144-9. Epub 2013 Aug 16.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36155DOI Listing
December 2013

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Am J Med Genet A 2010 Nov;152A(11):2908-11

Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33692DOI Listing
November 2010