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Results: 1-9 |
Results: 9
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
Authors: Zhou, B Westaway, SK Levinson, B Johnson, MA Gitschier, J Hayflick, SJ
Citation: B. Zhou et al., A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome, NAT GENET, 28(4), 2001, pp. 345-349
First Scientific Workshop on Hallervorden-Spatz Syndrome: Executive summary
Authors: Hayflick, SJ
Citation: Sj. Hayflick, First Scientific Workshop on Hallervorden-Spatz Syndrome: Executive summary, PED NEUROL, 25(2), 2001, pp. 99-101
hGFR alpha-4: A new member of the GDNF receptor family and a candidate forNBIA
Authors: Zhou, B Bae, SK Malone, AC Levinson, BB Kuo, YM Cilio, MR Bertini, E Hayflick, SJ Gitschier, JM
Citation: B. Zhou et al., hGFR alpha-4: A new member of the GDNF receptor family and a candidate forNBIA, PED NEUROL, 25(2), 2001, pp. 156-161
Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome
Authors: Hayflick, SJ Penzien, JM Michl, W Sharif, UM Rosman, NP Wheeler, PG
Citation: Sj. Hayflick et al., Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome, PED NEUROL, 25(2), 2001, pp. 166-169
Mutations in GJB6 cause hidrotic ectodermal dysplasia
Authors: Lamartine, J Essenfelder, GM Kibar, Z Lanneluc, I Callouet, E Laoudj, D Lemaitre, G Hand, C Hayflick, SJ Zonana, J Antonarakis, S Radhakrishna, U Kelsell, DP Christianson, AL Pitaval, A Der Kaloustian, V Fraser, C Blanchet-Bardon, C Rouleau, GA Waksman, G
Citation: J. Lamartine et al., Mutations in GJB6 cause hidrotic ectodermal dysplasia, NAT GENET, 26(2), 2000, pp. 142-144
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping
Authors: Kibar, Z Dube, MP Powell, J McCuaig, C Hayflick, SJ Zonana, J Hovnanian, A Radhakrishna, U Antonarakis, SE Benohanian, A Sheeran, AD Stephan, ML Gosselin, R Kelsell, DP Christianson, AL Fraser, FC Kaloustian, VMD Rouleau, GA
Citation: Z. Kibar et al., Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping, EUR J HUM G, 8(5), 2000, pp. 372-380
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi
Authors: Linck, LM Hayflick, SJ Lin, DS Battaile, KP Ginat, S Burlingame, T Gibson, KM Honda, M Honda, A Salen, G Tint, GS Connor, WE Steiner, RD
Citation: Lm. Linck et al., Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi, PRENAT DIAG, 20(3), 2000, pp. 238-240
Acute neurologic decompensation in an infant with cobalamin deficiency exposed to nitrous oxide
Authors: Felmet, K Robins, B Tilford, D Hayflick, SJ
Citation: K. Felmet et al., Acute neurologic decompensation in an infant with cobalamin deficiency exposed to nitrous oxide, J PEDIAT, 137(3), 2000, pp. 427-428
Primary care physicians' utilization and perceptions of genetics services
Authors: Hayflick, SJ Eiff, MP Carpenter, L Steinberger, J
Citation: Sj. Hayflick et al., Primary care physicians' utilization and perceptions of genetics services, GENET MED, 1(1), 1998, pp. 13-21
Risultati: 1-9 |