Search Results - "Altmann, Judith"

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry by Altmann, Judith, Büchner, Boriana, Nadaj-Pakleza, Aleksandra, Schäfer, Jochen, Jackson, Sandra, Lehmann, Diana, Deschauer, Marcus, Kopajtich, Robert, Lautenschläger, Ronald, Kuhn, Klaus A., Karle, Kathrin, Schöls, Ludger, Schulz, Jörg B., Weis, Joachim, Prokisch, Holger, Kornblum, Cornelia, Claeys, Kristl G., Klopstock, Thomas

“…The m.8344A>G mutation in the MTTK gene, which encodes the mitochondrial transfer RNA for lysine, is traditionally associated with myoclonic epilepsy and…”
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Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome by Altmann, Judith, Horn, Denise, Korinth, Dirk, Eggermann, Thomas, Henrich, Wolfgang, Verlohren, Stefan

“…We report the case of a fetus with sonographic characteristics of Beckwith‐Wiedemann syndrome (BWS). A 30‐year‐old gravida 2 para 1 was referred to our fetal…”
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Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus by Altmann, Judith, Kiver, Verena, Henrich, Wolfgang, Weichert, Alexander

“…Background The main objective of this retrospective analysis in a large tertiary center was the clinical outcome of prenatally diagnosed cardiac rhabdomyomas…”
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A 17-year analysis of pregnancies termination ≥14 weeks of gestation in a German level 1 perinatal center by Kiver, Verena I I, Altmann, Judith, Kamhieh-Milz, Julian, Weichert, Alexander

“…Background When discussing termination of pregnancy (TOP) after the first trimester, the main foci are the ethics and psychological reasoning/consequences. In…”
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Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome by Altmann, Judith, Horn, Denise, Korinth, Dirk, Eggermann, Thomas, Henrich, Wolfgang, Verlohren, Stefan

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