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Table of contents of journal: *Human molecular genetics (Print)

Results: 1-25/461

Authors: HEINE R PIKA U LEHMANNHORN F
Citation: R. Heine et al., A NOVEL SCN4A MUTATION CAUSING MYOTONIA AGGRAVATED BY COLD AND POTASSIUM, Human molecular genetics, 2(9), 1993, pp. 1349-1353

Authors: TAKAMIYA O KEMBALLCOOK G MARTIN DMA COOPER DN VONFELTEN A MEILI E HANN I PRANGNELL DR LUMLEY H TUDDENHAM EGD MCVEY JH
Citation: O. Takamiya et al., DETECTION OF MISSENSE MUTATIONS BY SINGLE-STRAND CONFORMATIONAL POLYMORPHISM (SSCP) ANALYSIS IN 5 DYSFUNCTIONAL VARIANTS OF COAGULATION FACTOR-VII, Human molecular genetics, 2(9), 1993, pp. 1355-1359

Authors: XIE YG HAN FY PEYRARD M RUTTLEDGE MH FRANSSON I DEJONG P COLLINS J DUNHAM I NORDENSKJOLD M DUMANSKI JP
Citation: Yg. Xie et al., CLONING OF A NOVEL, ANONYMOUS GENE FROM A MEGABASE-RANGE YAC AND COSMID CONTIG IN THE NEUROFIBROMATOSIS TYPE-2 MENINGIOMA REGION ON HUMAN CHROMOSOME-22Q12, Human molecular genetics, 2(9), 1993, pp. 1361-1368

Authors: HAYASAKA K TAKADA G IONASESCU VV
Citation: K. Hayasaka et al., MUTATION OF THE MYELIN PO GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1B, Human molecular genetics, 2(9), 1993, pp. 1369-1372

Authors: ADAMS M URQUHART A KIMPTON C GILL P
Citation: M. Adams et al., THE HUMAN D11S554 LOCUS - 4 DISTINCT FAMILIES OF REPEAT PATTERN ALLELES AT ONE LOCUS, Human molecular genetics, 2(9), 1993, pp. 1373-1376

Authors: GLENN CC NICHOLLS RD ROBINSON WP SAITOH S NIIKAWA N SCHINZEL A HORSTHEMKE B DRISCOLL DJ
Citation: Cc. Glenn et al., MODIFICATION OF 15Q11-Q13 DNA METHYLATION IMPRINTS IN UNIQUE ANGELMANAND PRADER-WILLI PATIENTS, Human molecular genetics, 2(9), 1993, pp. 1377-1382

Authors: JODICE C FRONTALI M PERSICHETTI F NOVELLETTO A PANDOLFO M SPADARO M GIUNTI P SCHINAIA G LULLI P MALASPINA P PLASMATI R TOLA R ANTONELLI A DIDONATO S MOROCUTTI C WEISSENBACH J CANN HM TERRENATO L
Citation: C. Jodice et al., THE GENE FOR SPINAL CEREBELLAR ATAXIA-1 (SCA1) IS FLANKED BY 2 CLOSELY LINKED HIGHLY POLYMORPHIC MICROSATELLITE LOCI, Human molecular genetics, 2(9), 1993, pp. 1383-1387

Authors: GECZ J VILLARD L LOSSI AM MILLASSEAU P DJABALI M FONTES M
Citation: J. Gecz et al., PHYSICAL AND TRANSCRIPTIONAL MAPPING OF DXS56-PGK1 1-MB REGION - IDENTIFICATION OF 3 NEW TRANSCRIPTS, Human molecular genetics, 2(9), 1993, pp. 1389-1396

Authors: ANVRET M AHLBERG G GRANDELL U HEDBERG B JOHNSON K EDSTROM L
Citation: M. Anvret et al., LARGER EXPANSIONS OF THE CTG REPEAT IN MUSCLE COMPARED TO LYMPHOCYTESFROM PATIENTS WITH MYOTONIC-DYSTROPHY, Human molecular genetics, 2(9), 1993, pp. 1397-1400

Authors: THOMAS GR ROBERTS EA ROSALES TO MOROZ SP LAMBERT MA WONG LTK COX DW
Citation: Gr. Thomas et al., ALLELIC ASSOCIATION AND LINKAGE STUDIES IN WILSON DISEASE, Human molecular genetics, 2(9), 1993, pp. 1401-1405

Authors: LINNENBACH AJ PRESSLER LB SENG BA KIMMEL BS TOMASZEWSKI JE MALKOWICZ SB
Citation: Aj. Linnenbach et al., CHARACTERIZATION OF CHROMOSOME-9 DELETIONS IN TRANSITIONAL-CELL CARCINOMA BY MICROSATELLITE ASSAY, Human molecular genetics, 2(9), 1993, pp. 1407-1411

Authors: WINDERICKX J BATTISTI L HIBIYA Y MOTULSKY AG DEEB SS
Citation: J. Winderickx et al., HAPLOTYPE DIVERSITY IN THE HUMAN RED AND GREEN OPSIN GENES - EVIDENCEFOR FREQUENT SEQUENCE EXCHANGE IN EXON-3, Human molecular genetics, 2(9), 1993, pp. 1413-1421

Authors: AZIBI K BACHNER L BECKMANN JS MATSUMURA K HAMOUDA E CHAOUCH M CHAOUCH A AITOUARAB R VIGNAL A WEISSENBACH J VINET MC LETURCQ F COLLIN H TOME FMS REGHIS A FARDEAU M CAMPBELL KP KAPLAN JC
Citation: K. Azibi et al., SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH THE DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN MAPS TO CHROMOSOME-13Q12, Human molecular genetics, 2(9), 1993, pp. 1423-1428

Authors: RICHARDS RI HOLMAN K YU S SUTHERLAND GR
Citation: Ri. Richards et al., FRAGILE-X SYNDROME UNSTABLE ELEMENT, P(CCG)N, AND OTHER SIMPLE TANDEMREPEAT SEQUENCES ARE BINDING-SITES FOR SPECIFIC NUCLEAR PROTEINS, Human molecular genetics, 2(9), 1993, pp. 1429-1435

Authors: CARRERA P CORDERA R FERRARI M CREMONESI L TARAMELLI R ANDRAGHETTI G CARDUCCI C DOZIO N POZZA G TAYLOR SI MICOSSI P BARBETTI F
Citation: P. Carrera et al., SUBSTITUTION OF LEU FOR PRO-193 IN THE INSULIN-RECEPTOR IN A PATIENT WITH A GENETIC FORM OF SEVERE INSULIN-RESISTANCE, Human molecular genetics, 2(9), 1993, pp. 1437-1441

Authors: YORIFUJI T WILSON RW BEAUDET AL
Citation: T. Yorifuji et al., RETROVIRAL-MEDIATED EXPRESSION OF CD18 IN NORMAL AND DEFICIENT HUMAN BONE-MARROW PROGENITOR CELLS, Human molecular genetics, 2(9), 1993, pp. 1443-1448

Authors: PRESTRIDGE DS BURKS C
Citation: Ds. Prestridge et C. Burks, THE DENSITY OF TRANSCRIPTIONAL ELEMENTS IN PROMOTER AND NON-PROMOTER SEQUENCES, Human molecular genetics, 2(9), 1993, pp. 1449-1453

Authors: PEPE G CHIMIENTI G
Citation: G. Pepe et G. Chimienti, CORRECT USAGE OF A MUTATED G(-SITE AND TRANSCRIPT QUANTITATION IN A LIPOPROTEIN LIPASE-DEFICIENT PATIENT(1) SPLICE), Human molecular genetics, 2(9), 1993, pp. 1455-1459

Authors: KENWRICK S LEVERSHA M ROOKE L HASLER T SONDEREGGER P
Citation: S. Kenwrick et al., LOCALIZATION OF THE HUMAN TAX-1 GENE TO 1Q32.1 - A REGION IMPLICATED IN MICROCEPHALY AND VANDERWOUDE SYNDROME, Human molecular genetics, 2(9), 1993, pp. 1461-1462

Authors: NAKATSURU S YANAGISAWA A FURUKAWA Y ICHII S KATO Y NAKAMURA Y HORII A
Citation: S. Nakatsuru et al., SOMATIC MUTATIONS OF THE APC GENE IN PRECANCEROUS LESION OF THE STOMACH, Human molecular genetics, 2(9), 1993, pp. 1463-1465

Authors: ZUHLKE C RIESS O SCHRODER K SIEDLACZCK I EPPLEN JT ENGEL W THIES U
Citation: C. Zuhlke et al., EXPANSION OF THE (CAG)(N) REPEAT CAUSING HUNTINGTONS-DISEASE IN 352 PATIENTS OF GERMAN ORIGIN, Human molecular genetics, 2(9), 1993, pp. 1467-1469

Authors: SCOTT HS NELSON PV LITJENS T HOPWOOD JJ MORRIS CP
Citation: Hs. Scott et al., MULTIPLE POLYMORPHISMS WITHIN THE ALPHA-L-IDURONIDASE GENE (IDUA) - IMPLICATIONS FOR A ROLE IN MODIFICATION OF MPS-I DISEASE PHENOTYPE, Human molecular genetics, 2(9), 1993, pp. 1471-1473

Authors: NORREMOLLE A RIESS O EPPLEN JT FENGER K HASHOLT L SORENSEN SA
Citation: A. Norremolle et al., TRINUCLEOTIDE REPEAT ELONGATION IN THE HUNTINGTON GENE IN HUNTINGTON DISEASE PATIENTS FROM 71 DANISH FAMILIES, Human molecular genetics, 2(9), 1993, pp. 1475-1476

Authors: CANCEL G KHATI C STEVANIN G PAGES JC AGID Y BRICE A CANN HM
Citation: G. Cancel et al., ENDOTHELIN-1 IS NOT A CANDIDATE GENE FOR SPINAL CEREBELLAR ATAXIA-1, Human molecular genetics, 2(9), 1993, pp. 1477-1479

Authors: FRIEDL W MANDL M SENGTELLER M
Citation: W. Friedl et al., SINGLE-STEP SCREENING METHOD FOR THE MOST COMMON MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS, Human molecular genetics, 2(9), 1993, pp. 1481-1482
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