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Showing articles 0 to 8 of 8 Filter Applied: facial appearance,abnormal (Click to remove) Molybdenum Cofactor Deficiency Neurol 85:e175-e178, Nagappa, M.,et al, 2015 Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis UptoDate 2022 Jan, Darras, B.T., 2022 Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency NEJM 375:1879-1890, Case 34-2016, 2016 Prader-Willi and Angelman Syndromes Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998 Erroneous Diagnosis Corrected After 28 Years Arch Neurol 53:1194-1196, Gordon,P.H.,et al, 1996 Myotonic Dystrophy In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994 A Clinical Study of Noonan Syndrome Arch Dis Child 67:178-183, Sharland, M.,et al, 1992 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Showing articles 0 to 8 of 8