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Meta Gene|January 22, 2015
Is microcephaly a so-far unrecognized feature of XYY syndrome?Sylvie Nguyen-Minh, Christoph Bührer, Christoph Hübner, et al.
Neuro-Degenerative Diseases|July 6, 2020
First Recognized Patient with Genetic Vitamin E Deficiency Stable after 36 Years of Controlled Supplement TherapyAlfried Kohlschütter, Barbara Finckh, Miriam Nickel, et al.
Gene|September 17, 2013
WITHDRAWN: Is microcephaly a so-far unrecognized feature of XYY syndrome?Sylvie Nguyen-Minh, Christoph Bührer, Christoph Hübner, et al.
Acta Neuropathologica|July 19, 2005
The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1)Alexander Diers, Marcel Kaczinski, Katja Grohmann, et al.
Muscle & Nerve|December 5, 2006
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalitiesClaudia Weiss, Sibylle Jakubiczka, Angela Huebner, et al.
Human Genetics|August 4, 2004
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1Ulf P Guenther, Markus Schuelke, Enrico Bertini, et al.
Chemistryopen|September 1, 2021
First Isolation and Structure Elucidation of GDNT-β-Glu - Tetraether Lipid Fragment from Archaeal Sulfolobus StrainsAlexander Scholte, Christoph Hübner, Dieter Ströhl, et al.
Human Mutation|April 14, 2007
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysisUlf-Peter Guenther, Raymonda Varon, Maria Schlicke, et al.
Orphanet Journal of Rare Diseases|October 22, 2014
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1Sylvie Picker-Minh, Andreas Busche, Britta Hartmann, et al.
Acta Neuropathologica Communications|May 5, 2026
Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signalingAnna Maria Haschke, Anja von Renesse, Eugenio Graceffo, et al.
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