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Pediatrics|December 1, 1991
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathyG F Hoffmann, F K Trefz, P G Barth, et al.
Neuromuscular Disorders : NMD|September 1, 1994
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28E A Janssen, G W Hensels, B A van Oost, et al.
American Journal of Human Genetics|March 1, 1995
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)P E Taschner, N de Vos, A D Thompson, et al.
International Journal of Molecular Sciences|September 9, 2022
Phospholipid Scramblase 4 (PLSCR4) Regulates Adipocyte Differentiation via PIP3-Mediated AKT ActivationLisa A G Barth, Michèle Nebe, Hermann Kalwa, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 30, 1987
Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndromeR J Wanders, W Smit, H S Heymans, et al.
Experimental Cell Research|May 1, 1987
Peroxisomes and peroxisomal functions in muscle. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndromeR J Wanders, P G Barth, C W van Roermund, et al.
Clinical Dysmorphology|January 1, 1993
Some variants of lethal neonatal short-limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 casesH J van der Harten, J T Brons, P F Dijkstra, et al.
Annals of Neurology|July 1, 1997
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalitiesM S van der Knaap, L M Smit, P G Barth, et al.
The Journal of Pediatrics|June 1, 1991
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduriaK M Gibson, W G Sherwood, G F Hoffman, et al.
Journal of the Royal Society, Interface|January 30, 2015
Micro- and nano-structural details of a spider's filter for substrate vibrations: relevance for low-frequency signal transmissionMaxim Erko, Osnat Younes-Metzler, Alexander Rack, et al.
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