Joke B G M Verheij

Joke B G M Verheij

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Joke B G M Verheij

Joke B G M Verheij

Publications by authors named "Joke B G M Verheij"

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35Publications

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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Gastroenterology 2018 07 29;155(1):130-143.e15. Epub 2018 Mar 29.

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2018.03.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058035PMC
July 2018

Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.

Biochim Biophys Acta 2015 Nov 15;1852(11):2352-61. Epub 2015 Aug 15.

Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2015.08.007DOI Listing
November 2015

Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.

Acta Ophthalmol 2014 May 7;92(3):276-81. Epub 2013 Jun 7.

Department of Ophthalmology, University of Groningen, University Medical Center Groningen, Groningen, The NetherlandsDepartment of Clinical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The NetherlandsDepartment of Biomedical Sciences Center of Excellence for Neuroscience, Foster School of Medicine, Texas Tech Health Sciences Center, El Paso, Texas, USA.

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http://doi.wiley.com/10.1111/aos.12105
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http://dx.doi.org/10.1111/aos.12105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773268PMC
May 2014

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

Genet Med 2013 Apr 4;15(4):310-3. Epub 2012 Oct 4.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1038/gim.2012.123DOI Listing
April 2013

The clinical spectrum of complete FBN1 allele deletions.

Eur J Hum Genet 2011 Mar 10;19(3):247-52. Epub 2010 Nov 10.

Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061999PMC
March 2011

Mutations in SCG10 are not involved in Hirschsprung disease.

PLoS One 2010 Dec 20;5(12):e15144. Epub 2010 Dec 20.

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0015144PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004862PMC
December 2010

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

Eur J Hum Genet 2008 Jun 30;16(6):673-9. Epub 2008 Jan 30.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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http://www.nature.com/articles/5202012
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http://dx.doi.org/10.1038/sj.ejhg.5202012DOI Listing
June 2008

Clomiphene and hypospadias on a detailed level: signal or chance?

Birth Defects Res A Clin Mol Teratol 2006 Apr;76(4):249-52

Department of Social Pharmacy, Pharmacoepidemiology and Pharmacotherapy, Groningen University Institute for Drug Exploration (GUIDE), The Netherlands.

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http://dx.doi.org/10.1002/bdra.20243DOI Listing
April 2006

Hereditary congenital unilateral deafness: a new disorder?

Ann Otol Rhinol Laryngol 2005 Apr;114(4):332-7

Department of Otorhinolaryngology, University Medical Center Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1177/000348940511400414DOI Listing
April 2005

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

Am J Med Genet 2002 Mar;108(3):223-5

Department of Medical Genetics, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.10172DOI Listing
March 2002