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Results: 1-25/28
Authors:
Arikawa-Hirasawa, E
Wilcox, WR
Le, AH
Silverman, N
Govindraj, P
Hassell, JR
Yamada, Y
Citation: E. Arikawa-hirasawa et al., Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene, NAT GENET, 27(4), 2001, pp. 431-434
Authors:
Passos-Bueno, MR
Wilcox, WR
Jabs, EW
Sertie, AL
Alonso, LG
Kitoh, H
Citation: Mr. Passos-bueno et al., Clinical spectrum of fibroblast growth factor receptor mutations (vol 14, pg 115, 1999), HUM MUTAT, 17(5), 2001, pp. 431-431
Authors:
Schweitzer, DN
Graham, JM
Lachman, RS
Jabs, EW
Okajima, K
Przylepa, KA
Shanske, A
Chen, K
Neidich, JA
Wilcox, WR
Citation: Dn. Schweitzer et al., Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3, AM J MED G, 98(1), 2001, pp. 75-91
Authors:
Cormier-Daire, V
Savarirayan, R
Lachman, RS
Neidich, JA
Grace, K
Rimoin, DL
Wilcox, WR
Citation: V. Cormier-daire et al., "Baby rattle" pelvis dysplasia, AM J MED G, 100(1), 2001, pp. 37-42
Authors:
Regel, LL
Wilcox, WR
Popov, D
Li, FC
Citation: Ll. Regel et al., Influence of freezing rate oscillations and convection on eutectic microstructure, ACT ASTRONA, 48(2-3), 2001, pp. 101-108
Authors:
Regels, LL
Wilcox, WR
Citation: Ll. Regels et Wr. Wilcox, Diamond film deposition by chemical vapor transport, ACT ASTRONA, 48(2-3), 2001, pp. 129-144
Authors:
Eng, CM
Guffon, N
Wilcox, WR
Germain, DP
Lee, P
Waldek, S
Caplan, L
Linthorst, GE
Desnick, RJ
Citation: Cm. Eng et al., Safety and efficacy of recombinant human alpha-galactosidase a replacementtherapy in Fabry's disease., N ENG J MED, 345(1), 2001, pp. 9-16
Authors:
Wang, YZ
Regel, LL
Wilcox, WR
Citation: Yz. Wang et al., Steady state detached solidification of water at zero gravity, J CRYST GR, 226(2-3), 2001, pp. 430-435
Authors:
Li, F
Regel, LL
Wilcox, WR
Citation: F. Li et al., The influence of electric current pulses on the microstructure of the MnBi/Bi eutectic, J CRYST GR, 223(1-2), 2001, pp. 251-264
Authors:
Tiller, GE
Hannig, VL
Dozier, D
Carrel, L
Trevarthen, KC
Wilcox, WR
Mundlos, S
Haines, JL
Gedeon, AK
Gecz, J
Citation: Ge. Tiller et al., A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1398-1407
Authors:
Krakow, D
Salazar, D
Wilcox, WR
Rimoin, DL
Cohn, DH
Citation: D. Krakow et al., Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes, EUR J HUM G, 8(8), 2000, pp. 645-648
Authors:
Spayde, EC
Joshi, AP
Wilcox, WR
Briggs, M
Cohn, DH
Olsen, BR
Citation: Ec. Spayde et al., Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia, MATRIX BIOL, 19(2), 2000, pp. 121-128
Authors:
Regel, LL
Wilcox, WR
Citation: Ll. Regel et Wr. Wilcox, Deposition of diamond on graphite and carbon felt from graphite heated in hydrogen at low pressure, J MAT SCI L, 19(6), 2000, pp. 455-457
Authors:
Savarirayan, R
Cormier-Daire, V
Unger, S
Lachman, RS
Roughley, PJ
Wagner, SF
Rimoin, DL
Wilcox, WR
Citation: R. Savarirayan et al., Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology, AM J MED G, 95(3), 2000, pp. 193-200
Authors:
Quadrelli, R
Vaglio, A
Reyno, S
Lemes, A
Salazar, D
Lachman, RS
Wilcox, WR
Citation: R. Quadrelli et al., Uruguay facio-cardio-musculo-skeletal syndrome: A novel X-linked recessivedisorder, AM J MED G, 95(3), 2000, pp. 247-265
Authors:
Popov, DI
Regel, LL
Wilcox, WR
Citation: Di. Popov et al., One-dimensional phase-field model for binary alloys, J CRYST GR, 212(3-4), 2000, pp. 574-583
Influence of contact angle, growth angle and melt surface tension on detached solidification of InSb
Authors:
Wang, YZ
Regel, LL
Wilcox, WR
Citation: Yz. Wang et al., Influence of contact angle, growth angle and melt surface tension on detached solidification of InSb, J CRYST GR, 209(1), 2000, pp. 175-180
Authors:
Popov, DI
Regel, LL
Wilcox, WR
Citation: Di. Popov et al., Application of the theorem of minimum entropy production to growth of lamellar eutectics with an oscillating freezing rate, J CRYST GR, 209(1), 2000, pp. 181-197
Authors:
Braverman, N
Lin, P
Moebius, FF
Obie, C
Moser, A
Glossmann, H
Wilcox, WR
Rimoin, DL
Smith, M
Kratz, L
Kelley, RI
Valle, D
Citation: N. Braverman et al., Mutations in the gene encoding 3 beta-hydroxysteroid-Delta(8),Delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome, NAT GENET, 22(3), 1999, pp. 291-294
Authors:
Passos-Bueno, MR
Wilcox, WR
Jabs, EW
Sertie, AL
Alonso, LG
Kitoh, H
Citation: Mr. Passos-bueno et al., Clinical spectrum of fibroblast growth factor receptor mutations, HUM MUTAT, 14(2), 1999, pp. 115-125
Authors:
Delot, E
King, LM
Briggs, MD
Wilcox, WR
Cohn, DH
Citation: E. Delot et al., Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene, HUM MOL GEN, 8(1), 1999, pp. 123-128
Authors:
Regel, LL
Wilcox, WR
Citation: Ll. Regel et Wr. Wilcox, Selective patterned deposition of diamond using a new technique, J MAT SCI L, 18(6), 1999, pp. 427-430
Authors:
Wilkin, DJ
Artz, AS
South, S
Lachman, RS
Rimoin, DL
Wilcox, WR
McKusick, VA
Stratakis, CA
Francomano, CA
Cohn, DH
Citation: Dj. Wilkin et al., Small deletions in the type II collagen triple helix produce Kniest dysplasia, AM J MED G, 85(2), 1999, pp. 105-112
Authors:
Bellus, GA
Bamshad, MJ
Przylepa, KA
Dorst, J
Lee, RR
Hurko, O
Jabs, EW
Curry, CJR
Wilcox, WR
Lachman, RS
Rimoin, DL
Francomano, CA
Citation: Ga. Bellus et al., Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3, AM J MED G, 85(1), 1999, pp. 53-65
Authors:
Brodie, SG
Kitoh, H
Lachman, RS
Nolasco, LM
Mekikian, PB
Wilcox, WR
Citation: Sg. Brodie et al., Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations, AM J MED G, 84(5), 1999, pp. 476-480