Konstantinos Tsiakas

Konstantinos Tsiakas

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Konstantinos Tsiakas

Konstantinos Tsiakas

Publications by authors named "Konstantinos Tsiakas"

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14Publications

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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

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

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a.

Childs Nerv Syst 2018 03 22;34(3):581-584. Epub 2017 Nov 22.

Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00381-017-3666-9DOI Listing
March 2018

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.

Genet Med 2018 Feb 27;20(2):259-268. Epub 2017 Jul 27.

Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Universitätsklinikum Münster, Münster, Germany.

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http://dx.doi.org/10.1038/gim.2017.106DOI Listing
February 2018

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

J Invest Dermatol 2014 Aug 27;134(8):2146-2153. Epub 2014 Feb 27.

Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University of Chieti-Pescara, Chieti, Italy; Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153694
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http://dx.doi.org/10.1038/jid.2014.119DOI Listing
August 2014

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.

Liver Transpl 2014 Apr 25;20(4):464-72. Epub 2014 Feb 25.

Department of Pediatric Hepatology and Liver Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/lt.23830DOI Listing
April 2014

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

Mol Genet Metab 2008 Jul 25;94(3):292-7. Epub 2008 Apr 25.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin, Albert-Schweitzer-Strasse 33, 48149 Münster, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920800074
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http://dx.doi.org/10.1016/j.ymgme.2008.03.009DOI Listing
July 2008