Moneef Shoukier

Moneef Shoukier

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Moneef Shoukier

Moneef Shoukier

Publications by authors named "Moneef Shoukier"

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20Publications

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Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency.

J Exp Med 2018 05 10;215(5):1327-1336. Epub 2018 Apr 10.

Institute of Cellular & Molecular Immunology, University Medical Center Göttingen, Göttingen, Germany

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http://dx.doi.org/10.1084/jem.20170534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5940257PMC
May 2018

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Am J Med Genet A 2018 03 5;176(3):663-667. Epub 2018 Jan 5.

UOC Neurochirurgia, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38593DOI Listing
March 2018

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.

Am J Med Genet A 2013 Oct 15;161A(10):2634-40. Epub 2013 Aug 15.

Institute of Human Genetics, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36129DOI Listing
October 2013

Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p.

Eur J Med Genet 2013 Aug 26;56(8):458-62. Epub 2013 Jun 26.

Institute of Human Genetics, University Medical Center Goettingen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.002DOI Listing
August 2013

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.

Eur J Med Genet 2012 Aug-Sep;55(8-9):480-4. Epub 2012 Jun 4.

Institute of Human Genetics, University of Göttingen, Heinrich-Düker-Weg 12, D-37073 Göttingen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2012.05.004DOI Listing
November 2012

Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.

Metallomics 2012 Feb 16;4(2):197-204. Epub 2011 Nov 16.

Department of Genetics and Evolution, Institute of Zoology, Jagiellonian University, Ingardena 6, Gronostajowa 9, 30-387 Kraków, Poland.

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http://dx.doi.org/10.1039/c1mt00134eDOI Listing
February 2012

Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

Am J Med Genet A 2011 Aug 7;155A(8):2003-7. Epub 2011 Jul 7.

Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34122DOI Listing
August 2011

Brain-derived neurotrophic factor (BDNF) gene polymorphisms shape cortical plasticity in humans.

Brain Stimul 2010 Oct 14;3(4):230-7. Epub 2010 Jan 14.

Department of Clinical Neurophysiology, Georg-August University of Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.brs.2009.12.003DOI Listing
October 2010

Pathways of proliferation and antiapoptosis driven in breast cancer stem cells by stem cell protein piwil2.

Cancer Res 2010 Jun 11;70(11):4569-79. Epub 2010 May 11.

North East England Stem Cell Institute, Institute of Human Genetics, and Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1158/0008-5472.CAN-09-2670DOI Listing
June 2010

Functional evaluation of paraplegin mutations by a yeast complementation assay.

Hum Mutat 2010 May;31(5):617-21

Institute of Genetics, Center for Molecular Medicine, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.

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http://doi.wiley.com/10.1002/humu.21226
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http://dx.doi.org/10.1002/humu.21226DOI Listing
May 2010

A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype.

Swiss Med Wkly 2008 Jul;138(29-30):432-6

Georg-August University Göttingen, Institute of Human Genetics, Göttingen, Germany.

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http://dx.doi.org/2008/29/smw-12135DOI Listing
July 2008