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Results: 1-8 |
Results: 8
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program
Authors: Prasad, C Johnson, JP Bonnefont, JP Dilling, LA Innes, AM Haworth, JC Beischel, L Thuillier, L Prip-Buus, C Singal, R Thompson, JRG Prasad, AN Buist, N Greenberg, CR
Citation: C. Prasad et al., Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program, MOL GEN MET, 73(1), 2001, pp. 55-63
Asymmetric crying facies and associated congenital anomalies: The contribution of 22q11 microdeletions
Authors: Innes, AM
Citation: Am. Innes, Asymmetric crying facies and associated congenital anomalies: The contribution of 22q11 microdeletions, J CHILD NEU, 16(10), 2001, pp. 778-778
Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First reportof an affected male and review of literature
Authors: Innes, AM Chudley, AE Reed, MH Shuckett, EP Hildes-Ripstein, GE Greenberg, CR
Citation: Am. Innes et al., Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First reportof an affected male and review of literature, AM J MED G, 102(1), 2001, pp. 44-47
Familial trigeminal neuralgia - Case report and review of the literature
Authors: Fleetwood, IG Innes, AM Hansen, SR Steinberg, GK
Citation: Ig. Fleetwood et al., Familial trigeminal neuralgia - Case report and review of the literature, J NEUROSURG, 95(3), 2001, pp. 513-517
Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome
Authors: Innes, AM Chudley, AE
Citation: Am. Innes et Ae. Chudley, Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome, J PED H ONC, 22(6), 2000, pp. 546-546
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternalillness in pregnancy
Authors: Innes, AM Seargeant, LE Balachandra, K Roe, CR Wanders, RJA Ruiter, JPN Casiro, O Grewar, DA Greenberg, CR
Citation: Am. Innes et al., Hepatic carnitine palmitoyltransferase I deficiency presenting as maternalillness in pregnancy, PEDIAT RES, 47(1), 2000, pp. 43-45
Genetic landmarks through philately - Henry Louis 'Lou' Gehrig and amyotrophic lateral sclerosis
Authors: Innes, AM Chudley, AE
Citation: Am. Innes et Ae. Chudley, Genetic landmarks through philately - Henry Louis 'Lou' Gehrig and amyotrophic lateral sclerosis, CLIN GENET, 56(6), 1999, pp. 425-427
Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype
Authors: Innes, AM Chudley, AE Carson, NL Dawson, AJ
Citation: Am. Innes et al., Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype, CLIN GENET, 56(3), 1999, pp. 238-241
Risultati: 1-8 |