Tatjana Bierhals

Tatjana Bierhals

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Tatjana Bierhals

Tatjana Bierhals

Publications by authors named "Tatjana Bierhals"

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15Publications

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Phenotype in an Infant with Homozygous Truncating Mutation.

N Engl J Med 2019 08 17;381(5):486-488. Epub 2019 Jul 17.

University Medical Center Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1056/NEJMc1905039DOI Listing
August 2019

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.

Hum Genet 2019 Jun 8;138(6):625-634. Epub 2019 Apr 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00439-019-02011-xDOI Listing
June 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants.

Eur J Med Genet 2018 Jun 7;61(6):329-334. Epub 2018 May 7.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.01.010DOI Listing
June 2018

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

Eur J Med Genet 2013 Jun 3;56(6):325-30. Epub 2013 Apr 3.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, Hamburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212130008
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http://dx.doi.org/10.1016/j.ejmg.2013.03.009DOI Listing
June 2013

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.

Am J Med Genet A 2013 Feb 10;161A(2):352-9. Epub 2013 Jan 10.

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.35730
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http://dx.doi.org/10.1002/ajmg.a.35730DOI Listing
February 2013