Search Results - "Ripperger, Tim"

A common ancestral DNMT3A-mutated preleukemic clone giving rise to AML and MDS in an adolescent girl.

Authors: Göhring, Gudrun Thomay, Kathrin Schmidt, Gunnar et al.

Source: Leukemia & Lymphoma. Mar2017, Vol. 58 Issue 3, p718-721. 4p.

Supplemental Human Genetics Point of View.

Authors: Ripperger, Tim Illig, Thomas Schlegelberger, Brigitte et al.

Source: Deutsches Ärzteblatt International. 4/5/2019, Vol. 116 Issue 14, p251-251. 1p.

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.

Authors: Golas, Monika M. Auber, Bernd Ripperger, Tim et al.

Source: American Journal of Medical Genetics. Part A; Jul2019, Vol. 179 Issue 7, p1383-1389, 7p

Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies.

Authors: Förster, Alisa Decker, Melanie Schlegelberger, Brigitte et al.

Source: Cancers. Jul2022, Vol. 14 Issue 14, pN.PAG-N.PAG. 18p.

Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.

Authors: Hardenberg, Sandra von Richter, Manuela F Hethey, Sven et al.

Source: Brain: A Journal of Neurology; Nov2020, Vol. 143 Issue 11, pe91-e91, 1p

KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?

Authors: Behnert A Auber B Steinemann D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Jun; Vol. 176 (6), pp. 1449-1454. Date of Electronic Publication: 2018 Apr 25.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE