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Results:
1-7
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Results: 7
Authors:
Turnpenny, PD
Pigott, RW
Citation: Pd. Turnpenny et Rw. Pigott, Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell toan acronym, J MED GENET, 38(4), 2001, pp. 271-272
Authors:
Bulman, MP
Kusumi, K
Frayling, TM
McKeown, C
Garrett, C
Lander, ES
Krumlauf, R
Hattersley, AT
Ellard, S
Turnpenny, PD
Citation: Mp. Bulman et al., Mutations in the human Delta homologue, DLL3, cause axial skeletal defectsin spondylocostal dysostosis, NAT GENET, 24(4), 2000, pp. 438-441
Authors:
Dean, JCS
Moore, SJ
Turnpenny, PD
Citation: Jcs. Dean et al., Developing diagnostic criteria for the fetal anticonvulsant syndromes, SEIZURE-E J, 9(3), 2000, pp. 233-234
Authors:
Turnpenny, PD
Hole, R
Citation: Pd. Turnpenny et R. Hole, The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600, J MED GENET, 37(4), 2000, pp. 314-315
Authors:
Butcher, G
Crawford, PJM
Turnpenny, PD
Perham, TGM
Citation: G. Butcher et al., Trifid incisors with multiple systemic findings; a patient in search of a diagnosis: Report of case, J DENT CHIL, 67(4), 2000, pp. 285
Authors:
Dean, JCS
Moore, SJ
Osborne, A
Howe, J
Turnpenny, PD
Citation: Jcs. Dean et al., Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene, CLIN GENET, 56(3), 1999, pp. 216-220
Authors:
Turnpenny, PD
Bulman, MP
Frayling, TM
Abu-Nasra, TK
Garrett, C
Hattersley, AT
Ellard, S
Citation: Pd. Turnpenny et al., A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3, AM J HU GEN, 65(1), 1999, pp. 175-182
Risultati:
1-7
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