Publications by authors named "Frederike L Harms"

14Publications

Single-channel properties of skeletal muscle ryanodine receptor pore ΔFF in two brothers with a lethal form of fetal akinesia.

Cell Calcium 2020 05 17;87:102182. Epub 2020 Feb 17.

Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599-7260, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ceca.2020.102182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216825PMC
May 2020

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Hum Mutat 2020 01 14;41(1):133-139. Epub 2019 Oct 14.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.23928DOI Listing
January 2020

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

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Am J Hum Genet 2018 10;103(4):579-591

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174322PMC
October 2018

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Am J Med Genet A 2018 02 22;176(2):477-482. Epub 2017 Dec 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38568DOI Listing
February 2018

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.

Am J Med Genet A 2016 11 18;170(11):2998-3003. Epub 2016 May 18.

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

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http://dx.doi.org/10.1002/ajmg.a.37759DOI Listing
November 2016