Publications by authors named "Eva Maria Christina Schwaibold"

7Publications

Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.

Gene 2020 Oct 22:145260. Epub 2020 Oct 22.

Division of Pediatric Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.gene.2020.145260DOI Listing
October 2020

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

Neurol Genet 2019 Jun 26;5(3):e327. Epub 2019 Apr 26.

Department of Neurology (P.-O.C., J.S.), University Medical Center Göttingen; Institute of Human Genetics (E.M.C.S., S.P.), University Medical Center Göttingen; Institute of Human Genetics (E.M.C.S.), Heidelberg University; Department of Neuroradiology (K.S.), University Medical Center Göttingen; CeGaT GmbH and Praxis für Humangenetik Tübingen (C.D.O.); Institute of Neuropathology (A.W., S.Z.), University Medical Center Göttingen; and Institute of Neuropathology, Saarland University Medical Center (A.W.), Homburg; and Institute of Human Genetics (S.P.), University Medical Center Göttingen, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515939PMC
June 2019

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Mol Cytogenet 2014 23;7(1):74. Epub 2014 Oct 23.

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

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http://dx.doi.org/10.1186/s13039-014-0074-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209064PMC
October 2014

De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

Mol Cytogenet 2014 Jan 23;7(1). Epub 2014 Jan 23.

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

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http://dx.doi.org/10.1186/1755-8166-7-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905920PMC
January 2014

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