Publications by authors named "Eva Weis"

8Publications

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Am J Med Genet A 2019 07 9;179(7):1214-1225. Epub 2019 May 9.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61172
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http://dx.doi.org/10.1002/ajmg.a.61172DOI Listing
July 2019

De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation.

Clin Dysmorphol 2017 Jul;26(3):187-189

aMedical Genetics Laboratory, Victor Babes National Institute of Pathology bDepartment of Pediatric Neurology cDepartment of Child and Adolescent Psychiatry, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, Romania dInstitute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000180DOI Listing
July 2017

Searching for gene expression differences in primary fibroblasts between patients with one and two neoplasms in childhood.

Pediatr Hematol Oncol 2013 Feb 9;30(1):33-45. Epub 2012 Nov 9.

Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center of the Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.3109/08880018.2012.735747DOI Listing
February 2013

Expression of somatic DNA repair genes in human testes.

J Cell Biochem 2007 Apr;100(5):1232-9

Institute for Human Genetics, Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1002/jcb.21113DOI Listing
April 2007

Sex-specific windows for high mRNA expression of DNA methyltransferases 1 and 3A and methyl-CpG-binding domain proteins 2 and 4 in human fetal gonads.

Mol Reprod Dev 2007 Feb;74(2):233-41

Institute for Human Genetics, Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1002/mrd.20615DOI Listing
February 2007