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American Journal of Medical Genetics|May 9, 2001
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counselingV Drouin-Garraud, M Belgrand, S Grünewald, et al.Clinical Neuropathology|November 16, 2010
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosisD Wallon, L Guyant-Maréchal, A Laquerrière, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|September 14, 2011
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patientsS Ouesleti, V Brunel, H Ben Turkia, et al.Prenatal Diagnosis|August 1, 1995
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemiaB Segues, J M Rozet, B Gilbert, et al.Human Molecular Genetics|September 16, 1998
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonismC Dumanchin, A Camuzat, D Campion, et al.Journal of Medical Genetics|July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsN Le Meur, M Holder-Espinasse, S Jaillard, et al.Postgraduate Medicine|March 1, 1984
Management of Meniere's disease. Surgery may help if medication failsR A GoldenbergOtolaryngologic Clinics of North America|August 1, 1994
Ossiculoplasty with composite prostheses. PORP and TORPR A GoldenbergHematology. American Society of Hematology. Education Program|December 17, 2008
Thrombophilia states and markers of coagulation activation in the prediction of pediatric venous thromboembolic outcomes: a comparative analysis with respect to adult evidenceNeil A GoldenbergThe American Journal of Otology|October 1, 1980
Ossiculoplasty: a refined method to prepare homograft ossiclesR A GoldenbergPageof 34