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Table of contents of journal: *Journal of medical genetics

Results: 1-25/261

Authors: GARVIN AM SPYCHER M HANER M TORHORST J MULLER H HERRMANN R ROCHLITZ C WEBER W SCOTT RJ
Citation: Am. Garvin et al., BRCA1 MUTATIONS IN A SELECTED SERIES OF BREAST OVARIAN-CANCER PATIENTS, Journal of Medical Genetics, 33(9), 1996, pp. 721-725

Authors: FROGGATT NJ BRASSETT C KOCH DJ EVANS DGR HODGSON SV PONDER BAJ MAHER ER
Citation: Nj. Froggatt et al., MUTATION SCREENING OF MSH2 AND MLH1 MESSENGER-RNA IN HEREDITARY NONPOLYPOSIS COLON-CANCER SYNDROME, Journal of Medical Genetics, 33(9), 1996, pp. 726-730

Authors: JULIANREYNIER C EISINGER F VENNIN P CHABAL F AURRAN Y NOGUES C BIGNON YJ MACHELARDROUMAGNAC M MAUGARDLOUBOUTIN C SERIN D BLANC B ORSONI P SOBOL H
Citation: C. Julianreynier et al., ATTITUDES TOWARDS CANCER PREDICTIVE TESTING AND TRANSMISSION OF INFORMATION TO THE FAMILY, Journal of Medical Genetics, 33(9), 1996, pp. 731-736

Authors: DECRUYENAERE M EVERSKIEBOOMS G BOOGAERTS A CASSIMAN JJ CLOOSTERMANS T DEMYTTENAERE K DOM R FRYNS JP VANDENBERGHE H
Citation: M. Decruyenaere et al., PREDICTION OF PSYCHOLOGICAL FUNCTIONING ONE-YEAR AFTER THE PREDICTIVETEST FOR HUNTINGTONS-DISEASE AND IMPACT OF THE TEST RESULT ON REPRODUCTIVE DECISION-MAKING, Journal of Medical Genetics, 33(9), 1996, pp. 737-743

Authors: WILKES D RUTLAND P PULLEYN LJ REARDON W MOSS C ELLIS JP WINTER RM MALCOLM S
Citation: D. Wilkes et al., A RECURRENT MUTATION, ALA391GLU, IN THE TRANSMEMBRANE REGION OF FGFR3CAUSES CROUZON SYNDROME AND ACANTHOSIS NIGRICANS, Journal of Medical Genetics, 33(9), 1996, pp. 744-748

Authors: ROUSSEAU F BONAVENTURE J LEGEAIMALLET L SCHMIDT H WEISSENBACH J MAROTEAUX P MUNNICH A LEMERRER M
Citation: F. Rousseau et al., CLINICAL AND GENETIC-HETEROGENEITY OF HYPOCHONDROPLASIA, Journal of Medical Genetics, 33(9), 1996, pp. 749-752

Authors: PIEKEDAHL S VANAAREM A DOBIN A CREMERS CWRJ KIMBERLING WJ
Citation: S. Piekedahl et al., GENETIC-HETEROGENEITY OF USHER SYNDROME TYPE-II IN A DUTCH POPULATION, Journal of Medical Genetics, 33(9), 1996, pp. 753-757

Authors: GRAY JR DAVIES SJ
Citation: Jr. Gray et Sj. Davies, A CLINICAL SEVERITY GRADING SCALE FOR MARFAN-SYNDROME, Journal of Medical Genetics, 33(9), 1996, pp. 758-759

Authors: WANG M KISHNANI P DECKERPHILLIPS M KAHLER SG CHEN YT GODFREY M
Citation: M. Wang et al., DOUBLE MUTANT FIBRILLIN-1 (FBN1) ALLELE IN A PATIENT WITH NEONATAL MARFAN-SYNDROME, Journal of Medical Genetics, 33(9), 1996, pp. 760-763

Authors: AKESSON HO HAGBERG B WAHLSTROM J
Citation: Ho. Akesson et al., RETT-SYNDROME, CLASSICAL AND ATYPICAL - GENEALOGICAL SUPPORT FOR COMMON ORIGIN, Journal of Medical Genetics, 33(9), 1996, pp. 764-766

Authors: TELVI L ION A CAREL JC DESGUERRE I PIRAUD M BOUTIN AM FEINGOLD J PONSOT G FELLOUS M MCELREAVEY K
Citation: L. Telvi et al., A DUPLICATION OF DISTAL XP ASSOCIATED WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPLASTIC EXTERNAL GENITALIA, MENTAL-RETARDATION, AND MULTIPLE CONGENITAL-ABNORMALITIES, Journal of Medical Genetics, 33(9), 1996, pp. 767-771

Authors: PIVNICK EK VELAGALETI GVN WILROY RS SMITH ME ROSE SR TIPTON RE THARAPEL AT
Citation: Ek. Pivnick et al., JACOBSEN-SYNDROME - REPORT OF A PATIENT WITH SEVERE EYE ANOMALIES, GROWTH-HORMONE DEFICIENCY, AND HYPOTHYROIDISM ASSOCIATED WITH DELETION-11(Q23Q25) AND REVIEW OF 52 CASES, Journal of Medical Genetics, 33(9), 1996, pp. 772-778

Authors: MORRISON PJ NEVIN NC
Citation: Pj. Morrison et Nc. Nevin, MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B (MUCOSAL NEUROMA SYNDROME, WAGENMANN-FROBOESE SYNDROME), Journal of Medical Genetics, 33(9), 1996, pp. 779-782

Authors: MARTORELL L ILLA I ROSELL J BENITEZ J SEDANO MJ BAIGET M
Citation: L. Martorell et al., HOMOZYGOUS MYOTONIC-DYSTROPHY - CLINICAL AND MOLECULAR STUDIES OF 3 UNRELATED CASES, Journal of Medical Genetics, 33(9), 1996, pp. 783-785

Authors: SANTAMARIA R TAMASI S DELPIANO G SEBASTIO G ANDRIA G BORRONE C FALDELLA G IZZO P SALVATORE F
Citation: R. Santamaria et al., MOLECULAR-BASIS OF HEREDITARY FRUCTOSE INTOLERANCE IN ITALY - IDENTIFICATION OF 2 NOVEL MUTATIONS IN THE ALDOLASE-B GENE, Journal of Medical Genetics, 33(9), 1996, pp. 786-788

Authors: YIP MY MACKENZIE H KOVACIC A MCINTOSH A
Citation: My. Yip et al., CHROMOSOME 3P23 BREAK WITH RING FORMATION AND TRANSLOCATION OF DISPLACED 3P23-]PTER SEGMENT TO 6PTER, Journal of Medical Genetics, 33(9), 1996, pp. 789-792

Authors: WALLERSTEIN R GIBAS L ANDERSON CE JACKSON L
Citation: R. Wallerstein et al., DIAGNOSIS OF A COMPLEX CHROMOSOMAL REARRANGEMENT USING FLUORESCENT IN-SITU HYBRIDIZATION, Journal of Medical Genetics, 33(9), 1996, pp. 793-794

Authors: JAMES C JAUCH A ROBSON L WATSON N SMITH A
Citation: C. James et al., A 3-1 2-YEAR-OLD GIRL WITH DISTAL TRISOMY-19Q DEFINED BY FISH/, Journal of Medical Genetics, 33(9), 1996, pp. 795-797

Authors: RUMSBY G MASSOUD AF AVEY C BROOK CGD
Citation: G. Rumsby et al., NON-EXPRESSION OF A COMMON MUTATION IN THE 21-HYDROXYLASE GENE - IMPLICATIONS FOR PRENATAL-DIAGNOSIS AND CARRIER TESTING, Journal of Medical Genetics, 33(9), 1996, pp. 798-799

Authors: KWOK C GOODFELLOW PN HAWKINS JR
Citation: C. Kwok et al., EVIDENCE TO EXCLUDE SOX9 AS A CANDIDATE GENE FOR XY SEX REVERSAL WITHOUT SKELETAL MALFORMATION, Journal of Medical Genetics, 33(9), 1996, pp. 800-801

Authors: CARLES S DESGEORGES M GOLDMAN A THIART R GUITTARD C KITAZOS CA DERAVEL TJL WESTWOOD ATR CLAUSTRES M RAMSEY M
Citation: S. Carles et al., FIRST REPORT OF CFTR MUTATIONS IN BLACK CYSTIC-FIBROSIS PATIENTS OF SOUTHERN AFRICAN ORIGIN, Journal of Medical Genetics, 33(9), 1996, pp. 802-804

Authors: BERRY AC
Citation: Ac. Berry, PREDICTIVE GENETIC TESTING IN CHILDREN, Journal of Medical Genetics, 33(9), 1996, pp. 806-807

Authors: JAMES WH
Citation: Wh. James, THE MALE EXCESS IN DOWNS-SYNDROME, Journal of Medical Genetics, 33(9), 1996, pp. 806-806

Authors: NORTH K
Citation: K. North, PSYCHOLOGICAL-ASPECTS OF VON RECKLINGHAUSEN NEUROFIBROMATOSIS (NF1), Journal of Medical Genetics, 33(9), 1996, pp. 806-806

Authors: MICHIE S MARTEAU T
Citation: S. Michie et T. Marteau, PREDICTIVE GENETIC TESTING IN CHILDREN - REPLY, Journal of Medical Genetics, 33(9), 1996, pp. 807-807
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