Publications by authors named "Raoul Heller"

38Publications

Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy - A pilot study.

Acta Myol 2020 Jun 1;39(2):83-89. Epub 2020 Jun 1.

Poliklinik für Kieferorthopädie, Universität zu Köln, Medizinische Fakultät und Universitätsklinikum Köln, Deutschland.

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http://dx.doi.org/10.36185/2532-1900-010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460731PMC
June 2020

Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.

Mol Cell Probes 2019 06 15;45:89-93. Epub 2019 Mar 15.

University of Cologne, Medical Faculty and University Hospital, Department of Pediatrics, Division of Pediatric Neurology, Germany; University of Cologne, Medical Faculty, Center for Molecular Medicine Cologne (CMMC), Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2019.03.002DOI Listing
June 2019

PRUNE1: a disease-causing gene for secondary microcephaly.

Brain 2017 10;140(10):e61

Institute of Human Genetics, Center for Molecular Medicine Cologne, and Institute of Genetics, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1093/brain/awx197DOI Listing
October 2017

A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.

Am J Med Genet A 2017 Aug 2;173(8):2132-2138. Epub 2017 Jun 2.

Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.38285
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http://dx.doi.org/10.1002/ajmg.a.38285DOI Listing
August 2017

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

Am J Hum Genet 2016 Nov 27;99(5):1206-1216. Epub 2016 Oct 27.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097934PMC
November 2016

Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone.

Neuropediatrics 2016 Aug 23;47(4):273-7. Epub 2016 May 23.

Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.

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http://dx.doi.org/10.1055/s-0036-1584084DOI Listing
August 2016

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.

Cell Mol Life Sci 2016 May 16;73(10):2089-104. Epub 2015 Nov 16.

Institute of Human Genetics, Institute of Genetics and Center for Molecular Medicine Cologne, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

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http://dx.doi.org/10.1007/s00018-015-2084-yDOI Listing
May 2016

The challenge of defining pathogenicity: the example of AHI1.

Genet Med 2015 Jun;17(6):508

1] Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany [2] Bioscientia Center for Human Genetics, Ingelheim, Germany.

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http://dx.doi.org/10.1038/gim.2015.46DOI Listing
June 2015

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Eur J Hum Genet 2014 Feb 10;22(2):286-8. Epub 2013 Jul 10.

1] Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany [2] Bioscientia Center for Human Genetics, Ingelheim, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895650PMC
February 2014

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.

Am J Med Genet A 2011 Dec 3;155A(12):3075-81. Epub 2011 Nov 3.

Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34300DOI Listing
December 2011

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).

Eur J Med Genet 2011 Sep-Oct;54(5):e495-500. Epub 2011 Jun 21.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.002DOI Listing
December 2011

Uniparental disomies 7 and 14.

Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):77-100

Institute of Medical Genetics, Campus Virchow-Klinikum, Charité, Augustenburger Platz 1, Berlin, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S1521690X100011
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http://dx.doi.org/10.1016/j.beem.2010.09.004DOI Listing
February 2011

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

Hum Genet 2007 Sep 14;122(2):191-9. Epub 2007 Jun 14.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1007/s00439-007-0390-7DOI Listing
September 2007

Biological and molecular characterization of a new human ampullary cancer cell line.

Anticancer Res 2003 Jan-Feb;23(1A):291-8

Chirurgische Klinik, Universitätsklinikum Eppendorf, Martinistr. 52, 20246 Hamburg, Germany.

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May 2003

HE6, a two-subunit heptahelical receptor associated with apical membranes of efferent and epididymal duct epithelia.

Mol Reprod Dev 2003 Jan;64(1):13-26

IHF Institute for Hormone and Fertility Research at the University of Hamburg, Germany.

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http://dx.doi.org/10.1002/mrd.10220DOI Listing
January 2003