Search Results - Christine Fauth
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Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subu... by Marcel Tisch, María Carmen De Mingo Alemany, Marta Suarez-Cubero, Christine Fauth, Michaela Defrancesco, Johannes Zschocke, Katharina Günther, Frank Edenhofer
Published in Stem Cell Research (2022-05-01)Get full text
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Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool by Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, Christine Fauth, Yoshiko Murakami, Franco Laccone, Daniela Karall, Walter Bonfig, Helen Stewart, Denisa Weis
Published in Frontiers in Genetics (2025-07-01)Get full text
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