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Results: 1-12 |
Results: 12
A FUCOSIDOSIS PATIENT WITH RELATIVE LONGEVITY AND A MISSENSE MUTATIONIN EXON-7 OF THE ALPHA-FUCOSIDASE GENE
Authors: FLEMING CJ SINCLAIR DU WHITE EJ WINCHESTER B WHITEFORD ML CONNOR JM
Citation: Cj. Fleming et al., A FUCOSIDOSIS PATIENT WITH RELATIVE LONGEVITY AND A MISSENSE MUTATIONIN EXON-7 OF THE ALPHA-FUCOSIDASE GENE, Journal of inherited metabolic disease, 21(6), 1998, pp. 688-689
MUTATION ANALYSIS OF PATIENTS WITH HERMANSKY-PUDLAK-SYNDROME - A FRAMESHIFT HOT-SPOT IN THE HPS GENE AND APPARENT LOCUS HETEROGENEITY
Authors: OH J HO LL ALAMELLO S AMATO D ARMSTRONG L BELLUCCI S CARAKUSHANSKY G ELLIS JP FONG CT GREEN JS HEON E LEGIUS E LEVIN AV NIEUWENHUIS HK PINCKERS A TAMURA N WHITEFORD ML YAMASAKI H SPRITZ RA
Citation: J. Oh et al., MUTATION ANALYSIS OF PATIENTS WITH HERMANSKY-PUDLAK-SYNDROME - A FRAMESHIFT HOT-SPOT IN THE HPS GENE AND APPARENT LOCUS HETEROGENEITY, American journal of human genetics, 62(3), 1998, pp. 593-598
PATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-6 CAUSES TRANSIENT NEONATAL DIABETES
Authors: WHITEFORD ML NARENDRA A WHITE MP COOKE A WILKINSON AG ROBERTSON KJ TOLMIE JL
Citation: Ml. Whiteford et al., PATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-6 CAUSES TRANSIENT NEONATAL DIABETES, Journal of Medical Genetics, 34(2), 1997, pp. 167-168
EXPERIENCE OF BRCA1 2 MUTATION TESTING IN THE WEST OF SCOTLAND - RESULTS AND CLINICAL IMPLICATIONS/
Authors: DAVIDSON HR RENWICK A DOUGLAS SF IRVINE LA WHITEFORD ML CROW Y BLACK D TRAINER AH
Citation: Hr. Davidson et al., EXPERIENCE OF BRCA1 2 MUTATION TESTING IN THE WEST OF SCOTLAND - RESULTS AND CLINICAL IMPLICATIONS/, Journal of Medical Genetics, 34, 1997, pp. 230-230
ETIOPATHOLOGY AND GENETIC-BASIS OF NEONATAL DIABETES
Authors: SHIELD JPH GARDNER RJ WADSWORTH EJK WHITEFORD ML JAMES RS ROBINSON DO BAUM JD TEMPLE IK
Citation: Jph. Shield et al., ETIOPATHOLOGY AND GENETIC-BASIS OF NEONATAL DIABETES, Archives of Disease in Childhood, 76(1), 1997, pp. 39-42
MUTATION ANALYSIS OF BRCA1 AND BRCA2 - WHAT DO THE RESULTS MEAN
Authors: DAVIDSON HR RENWICK AA DOUGLAS SF IRVINE L WHITEFORD ML CROW Y BLACK D TRAINER AH
Citation: Hr. Davidson et al., MUTATION ANALYSIS OF BRCA1 AND BRCA2 - WHAT DO THE RESULTS MEAN, American journal of human genetics, 61(4), 1997, pp. 340-340
HOLOPROSENCEPHALY IN THE WEST OF SCOTLAND 1975-1994
Authors: WHITEFORD ML TOLMIE JL
Citation: Ml. Whiteford et Jl. Tolmie, HOLOPROSENCEPHALY IN THE WEST OF SCOTLAND 1975-1994, Journal of Medical Genetics, 33(7), 1996, pp. 578-584
UNIPARENTAL ISODISOMY FOR CHROMOSOME-16 IN A GROWTH-RETARDED INFANT WITH CONGENITAL HEART-DISEASE
Authors: WHITEFORD ML COUTTS J ALROOMI L MATHER A LOWTHER G COOKE A VAUGHAN JI MOORE GE TOLMIE JL
Citation: Ml. Whiteford et al., UNIPARENTAL ISODISOMY FOR CHROMOSOME-16 IN A GROWTH-RETARDED INFANT WITH CONGENITAL HEART-DISEASE, Prenatal diagnosis, 15(6), 1995, pp. 579-584
OUTCOME OF BURKHOLDERIA (PSEUDOMONAS) CEPACIA COLONIZATION IN CHILDREN WITH CYSTIC-FIBROSIS FOLLOWING A HOSPITAL OUTBREAK
Authors: WHITEFORD ML WILKINSON JD MCCOLL JH CONLON FM MICHIE JR EVANS TJ PATON JY
Citation: Ml. Whiteford et al., OUTCOME OF BURKHOLDERIA (PSEUDOMONAS) CEPACIA COLONIZATION IN CHILDREN WITH CYSTIC-FIBROSIS FOLLOWING A HOSPITAL OUTBREAK, Thorax, 50(11), 1995, pp. 1194-1198
ANION (I-125(-)) EFFLUX FROM OSMOTICALLY SWOLLEN HUMAN OVARIAN ADENOCARCINOMA CELLS - EFFECTS OF P-GLYCOPROTEIN EXPRESSION
Authors: WILSON SM WHITEFORD ML PLUMB JA BOVELL DL
Citation: Sm. Wilson et al., ANION (I-125(-)) EFFLUX FROM OSMOTICALLY SWOLLEN HUMAN OVARIAN ADENOCARCINOMA CELLS - EFFECTS OF P-GLYCOPROTEIN EXPRESSION, Journal of physiology, 482P, 1995, pp. 13-13
THE REGULATION OF MEMBRANE I-125(-) AND RB-86(-CELL LINE (NCL-SG3) DERIVED FROM THE HUMAN SWEAT GLAND EPITHELIUM() PERMEABILITY IN A VIRALLY TRANSFORMED)
Authors: WILSON SM WHITEFORD ML BOVELL DL PEDIANI JD KO WH SMITH GL LEE CM ELDER HY
Citation: Sm. Wilson et al., THE REGULATION OF MEMBRANE I-125(-) AND RB-86(-CELL LINE (NCL-SG3) DERIVED FROM THE HUMAN SWEAT GLAND EPITHELIUM() PERMEABILITY IN A VIRALLY TRANSFORMED), Experimental physiology, 79(3), 1994, pp. 445-459
THE REGULATION OF CHLORIDE PERMEABILITY BY ATP IN A CELL-LINE (NCL-SG3) ESTABLISHED FROM THE HUMAN SWEAT GLAND EPITHELIUM
Authors: WHITEFORD ML BOVELL DL PEDIANI JD SMITH GL ELDER HY LEE CM WILSON SM
Citation: Ml. Whiteford et al., THE REGULATION OF CHLORIDE PERMEABILITY BY ATP IN A CELL-LINE (NCL-SG3) ESTABLISHED FROM THE HUMAN SWEAT GLAND EPITHELIUM, Journal of physiology, 467, 1993, pp. 160000104-160000104
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