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Author/Creator Riedhammer, Korbinian M.

2. Congenital disorders of glycosylation with defective fucosylation. Issue 6 (15th September 2021)

Authors:
Hüllen, Andreas; Falkenstein, Kristina; Weigel, Corina; Huidekoper, Hidde; Naumann‐Bartsch, Nora; Spenger, Johannes; Feichtinger, René G.; Schaefers, Jacqueline; Frenz, Stephanie; Kotlarz, Daniel; Momen, Tooba; Khoshnevisan, Razieh; Riedhammer, Korbinian M.; Santer, René; Herget, Theresia; Rennin...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 6(2021)
Page Start:
1441
Record Type:
Journal Article
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3. Connectome Analysis in an Individual with SETD1B-Related Neurodevelopmental Disorder and Epilepsy. Issue 6 (6th August 2022)

Authors:
Weng, Rosa; Nenning, Karl-Heinz; Schwarz, Michelle; Riedhammer, Korbinian M.; Brunet, Theresa; Wagner, Matias; Kasprian, Gregor; Lehrner, Johann; Zimprich, Fritz; Bonelli, Silvia B.; Krenn, Martin
Journal:
Journal of developmental and behavioral pediatrics
Issue:
Volume 43:Issue 6(2022)
Page Start:
e419
Record Type:
Journal Article
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4. De novo variants in neurodevelopmental disorders—experiences from a tertiary care center. Issue 1 (1st March 2021)

Authors:
Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpál, Ján; Havránková, Petra; Pavele...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 1(2021)
Page Start:
14
Record Type:
Journal Article
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6. Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. Issue 11 (22nd July 2019)

Authors:
Suleiman, Jehan; Riedhammer, Korbinian M.; Jicinsky, Timothy; Mundt, Melinda; Werner, Laurie; Gusic, Mirjana; Burgemeister, Anna L.; Alsaif, Hessa S.; Abdulrahim, Maha; Moghrabi, Nabil N; Nicolas‐Jilwan, Manal; AlSayed, Moeenaldeen; Bi, Weimin; Sampath, Srirangan; Alkuraya, Fowzan S.; El‐Hattab, ...
Journal:
Human mutation
Issue:
Volume 40:Issue 11(2019)
Page Start:
1985
Record Type:
Journal Article
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7. Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial. Issue 1 (25th October 2020)

Authors:
Boeckhaus, Jan; Hoefele, Julia; Riedhammer, Korbinian M.; Tönshoff, Burkhard; Ehren, Rasmus; Pape, Lars; Latta, Kay; Fehrenbach, Henry; Lange‐Sperandio, Baerbel; Kettwig, Matthias; Hoyer, Peter; Staude, Hagen; Konrad, Martin; John, Ulrike; Gellermann, Jutta; Hoppe, Bernd; Galiano, Matthias; Gessn...
Journal:
Clinical genetics
Issue:
Volume 99:Issue 1(2021)
Page Start:
143
Record Type:
Journal Article
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8. Syndromic neurodevelopmental disorder associated with de novo variants in DDX23. Issue 10 (29th May 2021)

Authors:
Burns, William; Bird, Lynne M.; Heron, Delphine; Keren, Boris; Ramachandra, Divya; Thiffault, Isabelle; Del Viso, Florencia; Amudhavalli, Shivarajan; Engleman, Kendra; Parenti, Ilaria; Kaiser, Frank J.; Wierzba, Jolanta; Riedhammer, Korbinian M.; Liptay, Susanne; Zadeh, Neda; Porrmann, Joseph; Fi...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 10(2021)
Page Start:
2863
Record Type:
Journal Article
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