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Results: 1-8 |
Results: 8
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome
Authors: Becker, K Splitt, M
Citation: K. Becker et M. Splitt, A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome, CLIN DYSMOR, 10(1), 2001, pp. 41-45
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
Authors: de Vries, BBA White, SM Knight, SJL Regan, R Homfray, T Young, ID Super, M McKeown, C Splitt, M Quarrell, OWJ Trainer, AH Niermeijer, MF Malcolm, S Flint, J Hurst, JA Winter, RM
Citation: Bba. De Vries et al., Clinical studies on submicroscopic subtelomeric rearrangements: a checklist, J MED GENET, 38(3), 2001, pp. 145-150
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects (vol 26, pg 365, 2000)
Authors: Bamford, RN Roessler, E Burdine, RD Saplakoglu, U dela Cruz, J Splitt, M Goodship, JA Towbin, J Bowers, P Ferrero, GB Marino, B Schier, AF Shen, MM Muenke, M Casey, B
Citation: Rn. Bamford et al., Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects (vol 26, pg 365, 2000), NAT GENET, 26(4), 2000, pp. 501-501
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects
Authors: Bamford, RN Roessler, E Burdine, RD Saplakoglu, U dela Cruz, J Splitt, M Towbin, J Bowers, P Marino, B Schier, AF Shen, MM Muenke, M Casey, B
Citation: Rn. Bamford et al., Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects, NAT GENET, 26(3), 2000, pp. 365-369
Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24
Authors: Goodship, J Gill, H Carter, J Jackson, A Splitt, M Wright, M
Citation: J. Goodship et al., Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24, AM J HU GEN, 67(2), 2000, pp. 498-503
Optimal measurement of surface shortwave irradiance using current instrumentation
Authors: Michalsky, J Dutton, E Rubes, M Nelson, D Stoffel, T Wesley, M Splitt, M DeLuisi, J
Citation: J. Michalsky et al., Optimal measurement of surface shortwave irradiance using current instrumentation, J ATMOSP OC, 16(1), 1999, pp. 55-69
Left-isomerism sequence and maternal type-P diabetes
Authors: Splitt, M Wright, C Sen, D Goodship, J
Citation: M. Splitt et al., Left-isomerism sequence and maternal type-P diabetes, LANCET, 354(9175), 1999, pp. 305-306
Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
Authors: Tassabehji, M Metcalfe, K Karmiloff-Smith, A Carette, MJ Grant, J Dennis, N Reardon, W Splitt, M Read, AP Donnai, D
Citation: M. Tassabehji et al., Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes, AM J HU GEN, 64(1), 1999, pp. 118-125
Risultati: 1-8 |