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
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
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