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Results: 1-7 |
Results: 7

Authors: Liburd, N Ghosh, M Riazuddin, S Naz, S Khan, S Ahmed, Z Riazuddin, S Liang, Y Menon, PSN Smith, T Smith, ACM Chen, KS Lupski, JR Wilcox, ER Potocki, L Friedman, TB
Citation: N. Liburd et al., Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome, HUM GENET, 109(5), 2001, pp. 535-541

Authors: Pollin, TI Dobyns, WB Crowe, CA Ledbetter, DH Bailey-Wilson, JE Smith, ACM
Citation: Ti. Pollin et al., Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3, AM J MED G, 85(4), 1999, pp. 369-375

Authors: Allanson, JE Greenberg, F Smith, ACM
Citation: Je. Allanson et al., The face of Smith-Magenis syndrome: a subjective and objective study, J MED GENET, 36(5), 1999, pp. 394-397

Authors: Pilz, DT Macha, ME Precht, KS Smith, ACM Dobyns, WB Ledbetter, DH
Citation: Dt. Pilz et al., Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence, GENET MED, 1(1), 1998, pp. 29-33

Authors: Dykens, EM Smith, ACM
Citation: Em. Dykens et Acm. Smith, Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome, J INTEL DIS, 42, 1998, pp. 481-489

Authors: Hodapp, RM Fidler, DJ Smith, ACM
Citation: Rm. Hodapp et al., Stress and coping in families of children with Smith-Magenis syndrome, J INTEL DIS, 42, 1998, pp. 331-340

Authors: Smith, ACM
Citation: Acm. Smith, Patient education, GUIDE TO GENETIC COUNSELING, 1998, pp. 99-126
Risultati: 1-7 |