Authors:
SCHNUR RE
GAO M
WICK PA
KELLER M
BENKE PJ
EDWARDS MJ
GRIX AW
HOCKEY A
JUNG JH
KIDD KK
KISTENMACHER M
LEVIN AV
LEWIS RA
MUSARELLA MA
NOWAKOWSKI RW
ORLOW SJ
PAGON RS
PILLERS DAM
PUNNETT HH
QUINN GE
TEZCAN K
WAGSTAFF J
WELEBER RG
Citation: Re. Schnur et al., OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM, American journal of human genetics, 62(4), 1998, pp. 800-809
Authors:
PAZNEKAS WA
CUNNINGHAM ML
HOWARD TD
KORF BR
LIPSON MH
GRIX AW
FEINGOLD M
GOLDBERG R
BOROCHOWITZ Z
ALECK K
MULLIKEN J
YIN MF
JABS EW
Citation: Wa. Paznekas et al., GENETIC-HETEROGENEITY OF SAETHRE-CHOTZEN-SYNDROME, DUE TO TWIST AND FGFR MUTATIONS, American journal of human genetics, 62(6), 1998, pp. 1370-1380
Authors:
HOWARD TD
CUNNINGHAM ML
KON BR
LIPSON MHJ
GRIX AW
FEINGOLD M
GOLDBERG R
YIN M
PAZNEKAS WA
JABS EW
Citation: Td. Howard et al., GENETIC-HETEROGENEITY IN SAETHTE-CHOTZEN-SYNDROME IS DUE TO TWIST, FGFR2, AND FGFR3 MUTATIONS, American journal of human genetics, 61(4), 1997, pp. 229-229
Authors:
SCHNUR RE
WICK PA
BAILEY C
REBBECK T
WELEBER RG
WAGSTAFF J
GRIX AW
PAGON RA
HOCKEY A
EDWARDS MJ
Citation: Re. Schnur et al., PHENOTYPIC VARIABILITY IN X-LINKED OCULAR ALBINISM - RELATIONSHIP TO LINKAGE GENOTYPES, American journal of human genetics, 55(3), 1994, pp. 484-496
Citation: Sl. Kilmer et al., FOCAL DERMAL HYPOPLASIA - 4 CASES WITH WIDELY VARYING PRESENTATIONS, Journal of the American Academy of Dermatology, 28(5), 1993, pp. 839-843
Citation: Ml. Huie et al., DE-NOVO MUTATION (13-NT DELETION) RESULTING IN INFANTILE GSDII (POMPE) IN A CHILD CARRYING A MISSENSE MUTATION ON THE OTHER ALLELE, American journal of human genetics, 53(3), 1993, pp. 906-906