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European Journal of Cell Biology|August 1, 1995
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disordersM Espeel, F Roels, M Giros, et al.Journal of Inherited Metabolic Disease|March 7, 2013
An update on serine deficiency disordersS N van der Crabben, N M Verhoeven-Duif, E H Brilstra, et al.European Journal of Human Genetics : EJHG|July 21, 2001
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15M Runte, C Färber, C Lich, et al.Brain : a Journal of Neurology|March 10, 1999
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotypeP De Jonghe, V Timmerman, C Ceuterick, et al.Journal of Medical Genetics|April 4, 2000
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13K Janssens, R Gershoni-Baruch, E Van Hul, et al.Neurology|August 22, 2008
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre typeL Van Maldergem, M Yuksel-Apak, H Kayserili, et al.American Journal of Human Genetics|March 11, 2000
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndromeR L Glaser, W Jiang, S A Boyadjiev, et al.Human Molecular Genetics|April 10, 1999
Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair StudyA Philippe, M Martinez, M Guilloud-Bataille, et al.Clinical Genetics|June 22, 2018
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differencesE Brischoux-Boucher, A Trimouille, G Baujat, et al.Journal of Medical Genetics|May 17, 2005
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatmentK Janssens, F Vanhoenacker, M Bonduelle, et al.Pageof 10