Publications by authors named "Rainer König"

20Publications

Anopheles metabolic proteins in malaria transmission, prevention and control: a review.

Parasit Vectors 2020 Sep 10;13(1):465. Epub 2020 Sep 10.

Covenant University Bioinformatics Research (CUBRe), Covenant University, Ota, Ogun State, Nigeria.

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http://dx.doi.org/10.1186/s13071-020-04342-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488410PMC
September 2020

Essential gene prediction in using machine learning approaches based on sequence and functional features.

Comput Struct Biotechnol J 2020 10;18:612-621. Epub 2020 Mar 10.

Integrated Research and Treatment Center, Center for Sepsis Control and Care (CSCC), Jena University Hospital, Am Klinikum 1, 07747 Jena, Germany.

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http://dx.doi.org/10.1016/j.csbj.2020.02.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096750PMC
March 2020

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Bone 2020 04 7;133:115219. Epub 2020 Jan 7.

Department of Pediatric Genetics, Akdeniz University Medical School, 07059 Antalya, Turkey; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.115219DOI Listing
April 2020

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

J Hum Genet 2019 Jul 24;64(7):609-616. Epub 2019 Apr 24.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://www.nature.com/articles/s10038-019-0602-8
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http://dx.doi.org/10.1038/s10038-019-0602-8DOI Listing
July 2019

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

Novel N-terminal truncating CLCN1 mutation in severe Becker disease.

Muscle Nerve 2014 Nov 24;50(5):866-7. Epub 2014 Sep 24.

Department of Neuropediatrics, Goethe University, Frankfurt am Main, Germany.

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http://doi.wiley.com/10.1002/mus.24312
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http://dx.doi.org/10.1002/mus.24312DOI Listing
November 2014

Wiedemann-Steiner syndrome: three further cases.

Am J Med Genet A 2010 Sep;152A(9):2372-5

Institut für Humangenetik der Johann Wolfgang Goethe Universität, Frankfurt, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33587DOI Listing
September 2010

A second case of Devriendt syndrome.

Clin Dysmorphol 2005 Jan;14(1):19-22

Institute of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany.

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http://dx.doi.org/10.1097/00019605-200501000-00004DOI Listing
January 2005

Genotype-phenotype correlations in Noonan syndrome.

J Pediatr 2004 Mar;144(3):368-74

Institute of Human Genetics, Departments of Pediatric Endocrinology and Pediatric Cardiology, University Children's Hospital, Erlangen, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2003.11.032DOI Listing
March 2004

Teebi hypertelorism syndrome.

Authors:
Rainer Koenig

Clin Dysmorphol 2003 Jul;12(3):187-9

Institute of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany.

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https://insights.ovid.com/crossref?an=00019605-200307000-000
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http://dx.doi.org/10.1097/01.mcd.0000077563.66911.c4DOI Listing
July 2003

Bardet-Biedl syndrome and Usher syndrome.

Authors:
Rainer Koenig

Dev Ophthalmol 2003 ;37:126-40

Institute of Human Genetics, University Hospital, Frankfurt am Main, Germany.

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http://dx.doi.org/10.1159/000072043DOI Listing
September 2003

SHORT syndrome.

Clin Dysmorphol 2003 Jan;12(1):45-9

Institute of Human Genetics, Johann Wolfgang Goethe University, Theodor-Stern-Kai 7, 60590 Frankfurt, Germany.

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http://dx.doi.org/10.1097/00019605-200301000-00008DOI Listing
January 2003

Spectrum of the acrocallosal syndrome.

Am J Med Genet 2002 Feb;108(1):7-11

Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany.

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http://dx.doi.org/10.1002/ajmg.10236DOI Listing
February 2002