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Author/Creator Kloth, Katja

1. 16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome. Issue 1 (16th May 2019)

Authors:
Kloth, Katja; Renner, Sina; Burmester, Gunter; Steinemann, Doris; Pabst, Brigitte; Lorenz, Birgit; Simon, Ronald; Kolbe, Verena; Hempel, Maja; Rosenberger, Georg
Journal:
Clinical genetics
Issue:
Volume 96:Issue 1(2019)
Page Start:
85
Record Type:
Journal Article
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2. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Issue 1 (December 2018)

Authors:
Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance; Nowak, Catherine; Douglas, Jessica; Swoboda, Kathryn; Steeves, Marcie; Sahai, Inderneel; Stumpel, Connie; Stegmann, Alexander; Wheeler, Patricia; Willing, Marcia; Fiala, Elise;...
Journal:
Nature communications
Issue:
Volume 9:Issue 1(2018)
Page Start:
1
Record Type:
Journal Article
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4. PIGN encephalopathy: Characterizing the epileptology. Issue 4 (18th February 2022)

Authors:
Bayat, Allan; de Valles‐Ibáñez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro‐Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; des Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carl...
Journal:
Epilepsia
Issue:
Volume 63:Issue 4(2022)
Page Start:
974
Record Type:
Journal Article
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5. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. Issue 6 (19th September 2021)

Authors:
van der Ven, Amelie T.; Johannsen, Jessika; Kortüm, Fanny; Wagner, Matias; Tsiakas, Konstantinos; Bierhals, Tatjana; Lessel, Davor; Herget, Theresia; Kloth, Katja; Lisfeld, Jasmin; Scholz, Tasja; Obi, Nadia; Wortmann, Saskia; Prokisch, Holger; Kubisch, Christian; Denecke, Jonas; Santer, René; Hem...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 6(2021)
Page Start:
766
Record Type:
Journal Article
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