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Results: 1-8 |
Results: 8
OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM
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
OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM
Authors: GAO M WICK PA SCHNUR RE
Citation: M. Gao et al., OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM, American journal of human genetics, 61(4), 1997, pp. 1953-1953
TYPE-I OCULOCUTANEOUS ALBINISM ASSOCIATED WITH A FULL-LENGTH DELETIONOF THE TYROSINASE GENE
Authors: SCHNUR RE SELLINGER BT HOLMES SA WICK PA TATSUMURA YO SPRITZ RA
Citation: Re. Schnur et al., TYPE-I OCULOCUTANEOUS ALBINISM ASSOCIATED WITH A FULL-LENGTH DELETIONOF THE TYROSINASE GENE, Journal of investigative dermatology, 106(5), 1996, pp. 1137-1140
INTRAGENIC TAQI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM (RFLP) IN CLCN4, BETWEEN THE LOCI FOR X-LINKED OCULAR ALBINISM (OA1) AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME (MLS)
Authors: SCHNUR RE WICK PA
Citation: Re. Schnur et Pa. Wick, INTRAGENIC TAQI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM (RFLP) IN CLCN4, BETWEEN THE LOCI FOR X-LINKED OCULAR ALBINISM (OA1) AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME (MLS), Human genetics, 95(5), 1995, pp. 594-595
ANALYSIS OF OA1 MUTATIONS IN PATIENTS WITH X-LINKED OCULAR ALBINISM
Authors: GAO M WICK PA LEWIS RA NOWAKOWSKI R RAPPAPORT E SCHNUR RE
Citation: M. Gao et al., ANALYSIS OF OA1 MUTATIONS IN PATIENTS WITH X-LINKED OCULAR ALBINISM, American journal of human genetics, 57(4), 1995, pp. 1226-1226
X-INACTIVATION PATTERNS IN GOLTZ AND AICARDI SYNDROMES
Authors: SCHNUR RE GAO M WICK PA CHRISTENSEN K NEIDICH JA
Citation: Re. Schnur et al., X-INACTIVATION PATTERNS IN GOLTZ AND AICARDI SYNDROMES, American journal of human genetics, 57(4), 1995, pp. 1452-1452
PHENOTYPIC VARIABILITY IN X-LINKED OCULAR ALBINISM - RELATIONSHIP TO LINKAGE GENOTYPES
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
VARIABILITY OF CUTANEOUS MELANIN MACROGLOBULES AND LINKAGE ANALYSIS IN X-LINKED OCULAR ALBINISM
Authors: SCHNUR RE WICK PA EDWARDS MJ NUSSBAUM RL
Citation: Re. Schnur et al., VARIABILITY OF CUTANEOUS MELANIN MACROGLOBULES AND LINKAGE ANALYSIS IN X-LINKED OCULAR ALBINISM, American journal of human genetics, 53(3), 1993, pp. 1070-1070
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