Katja Kloth

Katja Kloth

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Katja Kloth

Katja Kloth

Publications by authors named "Katja Kloth"

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15Publications

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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

Exome Sequencing in Children.

Dtsch Arztebl Int 2019 Mar;116(12):197-204

*Joint last authors; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf; Department of Pediatrics, University Medical Center Hamburg-Eppendorf; Institute of Human Genetics, Klinikum Rechts der Isar, TUM, Munich; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen; Institute of Human Genetics, Helmholtz Center Munich; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE).

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http://dx.doi.org/10.3238/arztebl.2019.0197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514384PMC
March 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

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Am J Hum Genet 2018 12 15;103(6):976-983. Epub 2018 Nov 15.

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288050PMC
December 2018

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

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

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Eur J Med Genet 2017 Sep 4;60(9):494-498. Epub 2017 Jul 4.

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

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173016
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http://dx.doi.org/10.1016/j.ejmg.2017.07.001DOI Listing
September 2017

Options and limitations in applying the fistula classification by the International Study Group for Pancreatic Fistula.

Ann Surg 2012 Jul;256(1):130-8

Department of General, Visceral and Thoracic Surgery, University Medical Center Hamburg-Eppendorf, University of Hamburg, Germany.

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http://dx.doi.org/10.1097/SLA.0b013e31824f24e4DOI Listing
July 2012