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Results: 1-25 | 26-50 | 51-75 | 76-88
Results: 1-25/88
NON-SYNDROMIC CLEFT-LIP AND PALATE - A GENOME WIDE SEARCH
Authors: LEES MM PRESCOTT N WINTER RM MALCOLM S
Citation: Mm. Lees et al., NON-SYNDROMIC CLEFT-LIP AND PALATE - A GENOME WIDE SEARCH, European journal of human genetics, 6, 1998, pp. 4264-4264
FIBROBLAST GROWTH-FACTOR RECEPTORS - LESSONS FROM THE GENES
Authors: BURKE D WILKES D BLUNDELL TL MALCOLM S
Citation: D. Burke et al., FIBROBLAST GROWTH-FACTOR RECEPTORS - LESSONS FROM THE GENES, Trends in biochemical sciences, 23(2), 1998, pp. 59-62
THE ABILITY OF THE RAT TO METABOLIZE MYRISTOYL-METHIONINE - AN ACYLAMINO ACID WITH POTENTIALLY USEFUL ANTIBACTERIAL PROPERTIES
Authors: ARNOLD DL MCGUIRE PF MILLER D MALCOLM S
Citation: Dl. Arnold et al., THE ABILITY OF THE RAT TO METABOLIZE MYRISTOYL-METHIONINE - AN ACYLAMINO ACID WITH POTENTIALLY USEFUL ANTIBACTERIAL PROPERTIES, Food and chemical toxicology, 36(9-10), 1998, pp. 771-779
THE TOXICOLOGICAL EFFECTS FOLLOWING THE INGESTION OF CHINOOK SALMON FROM THE GREAT-LAKES BY SPRAGUE-DAWLEY RATS DURING A 2-GENERATION FEEDING-REPRODUCTION STUDY
Authors: ARNOLD DL BRYCE F MILLER D STAPLEY R MALCOLM S HAYWARD S
Citation: Dl. Arnold et al., THE TOXICOLOGICAL EFFECTS FOLLOWING THE INGESTION OF CHINOOK SALMON FROM THE GREAT-LAKES BY SPRAGUE-DAWLEY RATS DURING A 2-GENERATION FEEDING-REPRODUCTION STUDY, Regulatory toxicology and pharmacology, 27(1), 1998, pp. 18-27
SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS
Authors: BUITING K DITTRICH B GROSS S LICH C FARBER C BUCHHOLZ T SMITH E REIS A BURGER J NOTHEN MM BARTHWITTE U JANSSEN B ABELIOVICH D LERER I VANDENOUWELAND AMW HALLEY DJJ SCHRANDERSTUMPEL C SMEETS H MEINECKE P MALCOLM S GARDNER A LALANDE M NICHOLLS RD FRIEND K SCHULZE A MATTHIJS G KOKKONEN H HILBERT P VANMALDERGEM L GLOVER G CARBONELL P WILLEMS P GILLESSENKAESBACH G HORSTHEMKE B
Citation: K. Buiting et al., SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS, American journal of human genetics, 63(1), 1998, pp. 170-180
PELIZAEUS-MERZBACHER-DISEASE - IDENTIFICATION OF XQ22 PROTEOLIPID-PROTEIN DUPLICATIONS AND CHARACTERIZATION OF BREAKPOINTS BY INTERPHASE FISH
Authors: WOODWARD K KENDALL E VETRIE D MALCOLM S
Citation: K. Woodward et al., PELIZAEUS-MERZBACHER-DISEASE - IDENTIFICATION OF XQ22 PROTEOLIPID-PROTEIN DUPLICATIONS AND CHARACTERIZATION OF BREAKPOINTS BY INTERPHASE FISH, American journal of human genetics, 63(1), 1998, pp. 207-217
NUTRIENT FLUXES THROUGH THE HUMBER ESTUARY
Authors: SANDERS RJ JICKELLS T MALCOLM S BROWN J KIRKWOOD D REEVE A TAYLOR J HORROBIN T ASHCROFT C
Citation: Rj. Sanders et al., NUTRIENT FLUXES THROUGH THE HUMBER ESTUARY, Journal of sea research, 37(1-2), 1997, pp. 3-23
THE TWIST GENE, ALTHOUGH NOT DISRUPTED IN SAETHRE-CHOTZEN PATIENTS WITH APPARENTLY BALANCED TRANSLOCATIONS OF 7P21, IS MUTATED IN FAMILIAL AND SPORADIC CASES
Authors: ROSE CSP PATEL P REARDON W MALCOLM S WINTER RM
Citation: Csp. Rose et al., THE TWIST GENE, ALTHOUGH NOT DISRUPTED IN SAETHRE-CHOTZEN PATIENTS WITH APPARENTLY BALANCED TRANSLOCATIONS OF 7P21, IS MUTATED IN FAMILIAL AND SPORADIC CASES, Human molecular genetics, 6(8), 1997, pp. 1369-1373
THE ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A CAUSE OF POLYCYSTICKIDNEY-DISEASE AND ASSOCIATED MALFORMATIONS, MAPS TO XP22.2-XP22.3
Authors: FEATHER SA WOOLF AS DONNAI D MALCOLM S WINTER RM
Citation: Sa. Feather et al., THE ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A CAUSE OF POLYCYSTICKIDNEY-DISEASE AND ASSOCIATED MALFORMATIONS, MAPS TO XP22.2-XP22.3, Human molecular genetics, 6(7), 1997, pp. 1163-1167
ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 SUBUNITS OF THE SLOW COMPONENT OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE JERVELL AND LANGE-NIELSEN-SYNDROME
Authors: TYSON J TRANEBJERG L BELLMAN S WREN C TAYLOR JFN BATHEN J ASLAKSEN B SORLAND SJ LUND O MALCOLM S PEMBREY M BHATTACHARYA S BITNERGLINDZICZ M
Citation: J. Tyson et al., ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 SUBUNITS OF THE SLOW COMPONENT OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE JERVELL AND LANGE-NIELSEN-SYNDROME, Human molecular genetics, 6(12), 1997, pp. 2179-2185
A TWIST IN DEVELOPMENT
Authors: ROSE CSP MALCOLM S
Citation: Csp. Rose et S. Malcolm, A TWIST IN DEVELOPMENT, Trends in genetics, 13(10), 1997, pp. 384-387
A GENE FOR FG-SYNDROME MAPS IN THE XQ12-Q21.31 REGION
Authors: BRIAULT S HILL R SHRIMPTON A ZHU DP TILL M RONCE N MARGARITTEJEANNIN P BARAITSER M MIDDLETONPRICE H MALCOLM S THOMPSON E HOO J WILSON G ROMANO C GUICHET A PEMBREY M FONTES M POUSTKA A MORAINE C
Citation: S. Briault et al., A GENE FOR FG-SYNDROME MAPS IN THE XQ12-Q21.31 REGION, American journal of medical genetics, 73(1), 1997, pp. 87-90
CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS
Authors: REARDON W WILKES D RUTLAND P PULLEYN LJ MALCOLM S DEAN JCS EVANS RD JONES BM HAYWARD R HALL CM NEVIN NC BARAITSER M WINTER RM
Citation: W. Reardon et al., CRANIOSYNOSTOSIS ASSOCIATED WITH FGFR3 PRO250ARG MUTATION RESULTS IN A RANGE OF CLINICAL PRESENTATIONS INCLUDING UNISUTURAL SPORADIC CRANIOSYNOSTOSIS, Journal of Medical Genetics, 34(8), 1997, pp. 632-636
COUNSELING DILEMMAS ASSOCIATED WITH THE MOLECULAR CHARACTERIZATION OF2 ANGELMAN-SYNDROME FAMILIES
Authors: GILBERT HL BUXTON JL CHAN CTJ MCKAY T COTTRELL S RAMSDEN S WINTER RM PEMBREY ME MALCOLM S
Citation: Hl. Gilbert et al., COUNSELING DILEMMAS ASSOCIATED WITH THE MOLECULAR CHARACTERIZATION OF2 ANGELMAN-SYNDROME FAMILIES, Journal of Medical Genetics, 34(8), 1997, pp. 651-655
MUTATIONS IN ISK UNDERLIE JERVELL AND LANGE-NIELSEN-SYNDROME
Authors: BITNERGLINDZICZ M TYSON J TRANEBJAERG L BELLMAN S WREN C MALCOLM S PEMBREY M BHATTACHARYA S
Citation: M. Bitnerglindzicz et al., MUTATIONS IN ISK UNDERLIE JERVELL AND LANGE-NIELSEN-SYNDROME, Journal of Medical Genetics, 34, 1997, pp. 21-21
NO EVIDENCE OF LINKAGE BETWEEN MARKERS D19S178 AND BCL3 AND NON-SYNDROMIC CLEFT-LIP AND PALATE USING SIB-PAIR ANALYSIS
Authors: LEES M PRESCOTT NJ WINTER RM MALCOLM S
Citation: M. Lees et al., NO EVIDENCE OF LINKAGE BETWEEN MARKERS D19S178 AND BCL3 AND NON-SYNDROMIC CLEFT-LIP AND PALATE USING SIB-PAIR ANALYSIS, Journal of Medical Genetics, 34, 1997, pp. 1003-1003
THE PHENOTYPIC MANIFESTATIONS OF CHROMOSOME 17P11.2 DUPLICATION
Authors: THOMAS PK MARQUES W DAVIS MB SWEENEY MG KING RHM BRADLEY JL MUDDLE JR TYSON J MALCOLM S HARDING AE
Citation: Pk. Thomas et al., THE PHENOTYPIC MANIFESTATIONS OF CHROMOSOME 17P11.2 DUPLICATION, Brain, 120, 1997, pp. 465-478
HEREDITARY DEMYELINATING NEUROPATHY OF INFANCY - A GENETICALLY COMPLEX SYNDROME - REPLY
Authors: TYSON J ELLIS D FAIRBROTHER U KING RHM MUNTONI E JACOBS J MALCOLM S THOMAS PK
Citation: J. Tyson et al., HEREDITARY DEMYELINATING NEUROPATHY OF INFANCY - A GENETICALLY COMPLEX SYNDROME - REPLY, Brain, 120, 1997, pp. 2114-2115
HEREDITARY DEMYELINATING NEUROPATHY OF INFANCY - A GENETICALLY COMPLEX SYNDROME
Authors: TYSON J ELLIS D FAIRBROTHER U KING RHM MUNTONI F JACOBS J MALCOLM S HARDING AE THOMAS PK
Citation: J. Tyson et al., HEREDITARY DEMYELINATING NEUROPATHY OF INFANCY - A GENETICALLY COMPLEX SYNDROME, Brain, 120, 1997, pp. 47-63
PELIZAEUS-MERZBACHER-DISEASE - DEFINING THE DUPLICATION BY INTERPHASEFISH
Authors: WOODWARD K KENDAL E VETRIE D MALCOLM S
Citation: K. Woodward et al., PELIZAEUS-MERZBACHER-DISEASE - DEFINING THE DUPLICATION BY INTERPHASEFISH, American journal of human genetics, 61(4), 1997, pp. 818-818
A SIB-PAIR ANALYSIS OF NON-SYNDROMIC CLEFT-LIP AND PALATE
Authors: LEES M PRESCOTT NJ WINTER RM MARS M MALCOLM S
Citation: M. Lees et al., A SIB-PAIR ANALYSIS OF NON-SYNDROMIC CLEFT-LIP AND PALATE, American journal of human genetics, 61(4), 1997, pp. 1644-1644
ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A MALE-LETHAL X-LINKED DISORDER, MAPS TO XP22.2-XP22.3
Authors: MALCOLM S FEATHER SA WOOLF AS DONNAI D WINTER RM
Citation: S. Malcolm et al., ORAL-FACIAL-DIGITAL SYNDROME TYPE-1 (OFD1), A MALE-LETHAL X-LINKED DISORDER, MAPS TO XP22.2-XP22.3, American journal of human genetics, 61(4), 1997, pp. 1653-1653
IDENTIFICATION OF NOVEL TRANSCRIPTS IN THE ANGELMAN AND PRADER-WILLI-SYNDROME CRITICAL REGIONS
Authors: HITCHINS MP FAIRBROTHER UL BUXTON JL RICKARD SJ PEMBREY ME MALCOLM S
Citation: Mp. Hitchins et al., IDENTIFICATION OF NOVEL TRANSCRIPTS IN THE ANGELMAN AND PRADER-WILLI-SYNDROME CRITICAL REGIONS, American journal of human genetics, 61(4), 1997, pp. 1815-1815
ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 COMPONENTS OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE THE JERVELL-AND-LANGE-NIELSEN-SYNDROME
Authors: TYSON J TRANEBJAERG L BELLMAN S WREN C TAYLOR J BATHEN J ASLAKSEN B SORLAND SJ LUND O MALCOLM S PEMBREY M BHATTACHARYA S BITNERGLINDZICZ M
Citation: J. Tyson et al., ISK AND KVLQT1 - MUTATION IN EITHER OF THE 2 COMPONENTS OF THE DELAYED RECTIFIER POTASSIUM CHANNEL CAN CAUSE THE JERVELL-AND-LANGE-NIELSEN-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 2044-2044
GENETIC-LINKAGE ANALYSIS IN FAMILIES WITH CHARCOT-MARIE-TOOTH TYPE-2 NEUROPATHY
Authors: TIMMERMAN V DEJONGHE P DEVRIENDT E FITZPATRICK D MALCOLM S VANBROECKHOVEN C
Citation: V. Timmerman et al., GENETIC-LINKAGE ANALYSIS IN FAMILIES WITH CHARCOT-MARIE-TOOTH TYPE-2 NEUROPATHY, American journal of human genetics, 61(4), 1997, pp. 2358-2358
Risultati: 1-25 | 26-50 | 51-75 | 76-88