Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome – a case report

by Manfred Nilius, Jürgen Kohlhase, Johann Lorenzen, Günter Lauer, Matthias C. Schulz
Published 2019-02-01

A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene

by Alieh Mirzaee, Narges Pishva, Zohreh Karamizadeh, Jurgen Kohlhase, Shahnaz Purarian, Fariba Hemmati, Mostajab Razavi, Shiva Nasirabadi
Published 2017-09-01

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injection...

by Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier
Published 2021-05-01

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

by Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Published 2021-03-01