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Results: 1-11 |
Results: 11
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis
Authors: Gripp, KW Kasparcova, V McDonald-McGinn, DM Bhatt, S Bartlett, SP Storm, AL Drumheller, TC Emanuel, BS Zackai, EH Stolle, CA
Citation: Kw. Gripp et al., A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis, GENET MED, 3(2), 2001, pp. 102-108
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia
Authors: Gripp, KW McDonald-McGinn, DM La Rossa, D McGain, D Federman, N Vlachos, A Glader, BE McKenzie, SE Lipton, JM Zackai, EH
Citation: Kw. Gripp et al., Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia, AM J MED G, 101(3), 2001, pp. 268-274
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
Authors: Gripp, KW Wotton, D Edwards, MC Roessler, E Ades, L Meinecke, P Richieri-Costa, A Zackai, EH Massague, J Muenke, M Elledge, SJ
Citation: Kw. Gripp et al., Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination, NAT GENET, 25(2), 2000, pp. 205-208
Mutations in the human TWIST gene (vol 15, pg 150, 2000)
Authors: Gripp, KW Zackai, EH Stolle, CA
Citation: Kw. Gripp et al., Mutations in the human TWIST gene (vol 15, pg 150, 2000), HUM MUTAT, 15(5), 2000, pp. 479-479
Mutations in the human TWIST gene
Authors: Gripp, KW Zackai, EH Stolle, CA
Citation: Kw. Gripp et al., Mutations in the human TWIST gene, HUM MUTAT, 15(2), 2000, pp. 150-155
Craniosynostosis: Molecular testing-A necessity for counseling
Authors: Zackai, EH Gripp, KW Stolle, CA
Citation: Eh. Zackai et al., Craniosynostosis: Molecular testing-A necessity for counseling, AM J MED G, 92(2), 2000, pp. 157-157
Second case of bladder carcinoma in a patient with Costello syndrome
Authors: Gripp, KW Scott, CI Nicholson, L Figueroa, TE
Citation: Kw. Gripp et al., Second case of bladder carcinoma in a patient with Costello syndrome, AM J MED G, 90(3), 2000, pp. 256-259
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein
Authors: Hinek, A Smith, AC Cutiongco, EM Callahan, JW Gripp, KW Weksberg, R
Citation: A. Hinek et al., Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein, AM J HU GEN, 66(3), 2000, pp. 859-872
Not Antley-Bixler syndrome
Authors: Gripp, KW Zackai, EH Cohen, MM
Citation: Kw. Gripp et al., Not Antley-Bixler syndrome, AM J MED G, 83(1), 1999, pp. 65-66
Aphallia as part of urorectal septum malformation sequence in an infant ofa diabetic mother
Authors: Gripp, KW Barr, M Anadiotis, G McDonald-McGinn, DM Zderic, SA Zackai, EH
Citation: Kw. Gripp et al., Aphallia as part of urorectal septum malformation sequence in an infant ofa diabetic mother, AM J MED G, 82(5), 1999, pp. 363-367
TWIST gene mutation in a patient with radial aplasia and craniosynostosis:Further evidence for heterogeneity of Baller-Gerold syndrome
Authors: Gripp, KW Stolle, CA Celle, L McDonald-McGinn, DM Whitaker, LA Zackai, EH
Citation: Kw. Gripp et al., TWIST gene mutation in a patient with radial aplasia and craniosynostosis:Further evidence for heterogeneity of Baller-Gerold syndrome, AM J MED G, 82(2), 1999, pp. 170-176
Risultati: 1-11 |