Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Peter Michael Kroisel"'
Autor:
Sinja Kieninger, Ting Xiao, Nicole Weisschuh, Susanne Kohl, Klaus Rüther, Peter Michael Kroisel, Tobias Brockmann, Steffi Knappe, Ulrich Kellner, Wolf Lagrèze, Pascale Mazzola, Tobias B Haack, Bernd Wissinger, Felix Tonagel
Publikováno v:
Journal of Medical Genetics. 59:1027-1034
BackgroundLeber’s hereditary optic neuropathy (LHON) has been considered a prototypical mitochondriopathy and a textbook example for maternal inheritance linked to certain disease-causing variants in the mitochondrial genome. Recently, an autosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::516863bcb730e99542976a4cb6fadb0e
https://doi.org/10.1136/jmedgenet-2021-108235
https://doi.org/10.1136/jmedgenet-2021-108235
Autor:
Thomas Eggermann, Matthias Begemann, Anna Jauch, Bernd Denecke, Michael Baudis, Ute Moog, Barbara Oehl-Jaschkowitz, Klaus Zerres, Peter Michael Kroisel, Bernd Schulze, Peter Blümel, Nadina Ortiz Brüchle, Sabrina Spengler, Gisela Raabe-Meyer, Christiane Spaich
Publikováno v:
The Journal of Pediatrics. 161:933-942.e1
Objective To determine the contribution of submicroscopic chromosomal imbalances to the etiology of Silver-Russell syndrome (SRS) and SRS-like phenotypes. Study design We performed molecular karyotyping in 41 patients with SRS or SRS-like features wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1255bc02375c600ddacb590936932226
https://doi.org/10.1016/j.jpeds.2012.04.045
https://doi.org/10.1016/j.jpeds.2012.04.045