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Results:
1-7
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Results: 7
Authors:
Katsanis, N
Lupski, JR
Beales, PL
Citation: N. Katsanis et al., Exploring the molecular basis of Bardet-Biedl syndrome, HUM MOL GEN, 10(20), 2001, pp. 2293-2299
Authors:
Katsanis, N
Ansley, SJ
Badano, JL
Eichers, ER
Lewis, RA
Hoskins, BE
Scambler, PJ
Davidson, WS
Beales, PL
Lupski, JR
Citation: N. Katsanis et al., Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder, SCIENCE, 293(5538), 2001, pp. 2256-2259
Authors:
Beales, PL
Katsanis, N
Lewis, RA
Ansley, SJ
Elcioglu, N
Raza, J
Woods, MO
Green, JS
Parfrey, PS
Davidson, WS
Lupski, JR
Citation: Pl. Beales et al., Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohortreveal a minor involvement of BBS6 and delineate the critical intervals ofother loci, AM J HU GEN, 68(3), 2001, pp. 606-616
Authors:
Katsanis, N
Beales, PL
Woods, MO
Lewis, RA
Green, JS
Parfrey, PS
Ansley, SJ
Davidson, WS
Lupski, JR
Citation: N. Katsanis et al., Mutations in MKKS cause obesity, retinal dystrophy and renal malformationsassociated with Bardet-Biedl syndrome, NAT GENET, 26(1), 2000, pp. 67-70
Authors:
Beales, PL
Reid, HAS
Griffiths, MH
Maher, ER
Flinter, FA
Woolf, AS
Citation: Pl. Beales et al., Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome, NEPH DIAL T, 15(12), 2000, pp. 1977-1985
Authors:
Beales, PL
Elcioglu, N
Woolf, AS
Parker, D
Flinter, FA
Citation: Pl. Beales et al., New criteria for improved diagnosis of Bardet-Biedl syndrome: results of apopulation survey, J MED GENET, 36(6), 1999, pp. 437-446
Authors:
Katsanis, N
Lewis, RA
Stockton, DW
Mai, PMT
Baird, L
Beales, PL
Leppert, M
Lupski, JR
Citation: N. Katsanis et al., Delineation of the critical interval of Bardet-Biedl Syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees, AM J HU GEN, 65(6), 1999, pp. 1672-1679
Risultati:
1-7
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