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Results: 1-16 |
Results: 16
LOCALIZATION OF A GENE FOR OCULODENTODIGITAL SYNDROME TO HUMAN-CHROMOSOME 6Q22-Q24
Authors: GLADWIN A DONNAI D METCALFE K SCHRANDERSTUMPEL C BRUETON L VERLOES A AYLSWORTH A TORIELLO H WINTER R DIXON M
Citation: A. Gladwin et al., LOCALIZATION OF A GENE FOR OCULODENTODIGITAL SYNDROME TO HUMAN-CHROMOSOME 6Q22-Q24, Human molecular genetics, 6(1), 1997, pp. 123-127
MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME
Authors: CLAYTONSMITH J KERR B BRUNNER H TRANEBJAERG L MAGEE A HENNEKAM RCM MUELLER RF BRUETON L SUPER M STEENJOHNSEN J DONNAI D
Citation: J. Claytonsmith et al., MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME, Clinical dysmorphology, 6(4), 1997, pp. 291-302
SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY
Authors: RYAN AK GOODSHIP JA WILSON DI PHILIP N LEVY A SEIDEL H SCHUFFENHAUER S OECHSLER H BELOHRADSKY B PRIEUR M AURIAS A RAYMOND FL CLAYTONSMITH J HATCHWELL E MCKEOWN C BEEMER FA DALLAPICCOLA B NOVELLI G HURST JA IGNATIUS J GREEN AJ WINTER RM BRUETON L BRONDUMNIELSEN K STEWART F VANESSEN T PATTON M PATERSON J SCAMBLER PJ
Citation: Ak. Ryan et al., SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY, Journal of Medical Genetics, 34(10), 1997, pp. 798-804
SPECTRUM OF CRANIOSYNOSTOSIS PHENOTYPES ASSOCIATED WITH NOVEL MUTATIONS AT THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 LOCUS
Authors: PULLEYN LJ REARDON W WILKES D RUTLAND P JONES BM HAYWARD R HALL CM BRUETON L CHUN N LAMMER E MALCOLM S WINTER RM
Citation: Lj. Pulleyn et al., SPECTRUM OF CRANIOSYNOSTOSIS PHENOTYPES ASSOCIATED WITH NOVEL MUTATIONS AT THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 LOCUS, European journal of human genetics, 4(5), 1996, pp. 283-291
ARTHROGRYPOSIS MULTIPLEX CONGENITA ASSOCIATED WITH MATERNAL ANTIBODIES TO FETAL ACETYLCHOLINE-RECEPTOR
Authors: VINCENT A RIEMERSMA S BEESON D HUSON S BRUETON L NEWLAND C NEWSOMDAVIS J
Citation: A. Vincent et al., ARTHROGRYPOSIS MULTIPLEX CONGENITA ASSOCIATED WITH MATERNAL ANTIBODIES TO FETAL ACETYLCHOLINE-RECEPTOR, Neurology, 46(2), 1996, pp. 1004-1004
RECURRENT CONGENITAL ARTHROGRYPOSIS LEADING TO A DIAGNOSIS OF MYASTHENIA-GRAVIS IN AN INITIALLY ASYMPTOMATIC MOTHER
Authors: BARNES PRJ KANABAR DJ BRUETON L NEWSOMDAVIS J HUSON SM MANN NP HILTONJONES D
Citation: Prj. Barnes et al., RECURRENT CONGENITAL ARTHROGRYPOSIS LEADING TO A DIAGNOSIS OF MYASTHENIA-GRAVIS IN AN INITIALLY ASYMPTOMATIC MOTHER, Neuromuscular disorders, 5(1), 1995, pp. 59-65
PRENATAL ANALYSIS OF THE INSULIN-RECEPTOR GENE IN A FAMILY WITH LEPRECHAUNISM
Authors: KROOK A BELL JA ROBERTSON ME BRUETON L
Citation: A. Krook et al., PRENATAL ANALYSIS OF THE INSULIN-RECEPTOR GENE IN A FAMILY WITH LEPRECHAUNISM, Prenatal diagnosis, 15(7), 1995, pp. 669-671
CLINICAL AND HEMATOLOGIC ASPECTS OF THE X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME (ATR-X)
Authors: GIBBONS RJ BRUETON L BUCKLE VJ BURN J CLAYTONSMITH J DAVISON BCC GARDNER RJM HOMFRAY T KEARNEY L KINGSTON HM NEWBURYECOB R PORTEOUS MEP WILKIE AOM HIGGS DR
Citation: Rj. Gibbons et al., CLINICAL AND HEMATOLOGIC ASPECTS OF THE X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME (ATR-X), American journal of medical genetics, 55(3), 1995, pp. 288-299
ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH MATERNAL AUTOANTIBODIES SPECIFIC FOR A FETAL ANTIGEN
Authors: VINCENT A NEWLAND C BRUETON L BEESON D RIEMERSMA S HUSON SM NEWSOMDAVIS J
Citation: A. Vincent et al., ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH MATERNAL AUTOANTIBODIES SPECIFIC FOR A FETAL ANTIGEN, Lancet, 346(8966), 1995, pp. 24-25
NOVEL MUTATIONS AND DELETIONS OF THE KIT (STEEL FACTOR-RECEPTOR) GENEIN HUMAN PIEBALDISM
Authors: EZOE K HOLMES SA HO LL BENNETT CP BOLOGNIA JL BRUETON L BURN J FALABELLA R GATTO EM ISHII N MOSS C PITTELKOW MR THOMPSON E WARD KA SPRITZ RA
Citation: K. Ezoe et al., NOVEL MUTATIONS AND DELETIONS OF THE KIT (STEEL FACTOR-RECEPTOR) GENEIN HUMAN PIEBALDISM, American journal of human genetics, 56(1), 1995, pp. 58-66
ARTHROGRYPOSIS ASSOCIATED WITH ANTIBODIES INHIBITING FETAL ACETYLCHOLINE-RECEPTOR FUNCTION
Authors: VINCENT A RIEMERSMA S HAWKE S NEWSOMDAVIS J BRUETON L
Citation: A. Vincent et al., ARTHROGRYPOSIS ASSOCIATED WITH ANTIBODIES INHIBITING FETAL ACETYLCHOLINE-RECEPTOR FUNCTION, Annals of neurology, 36(2), 1994, pp. 325-325
MYASTHENIA-GRAVIS - AN IMPORTANT CAUSE OF THE PENA-SHOKEIR PHENOTYPE
Authors: BRUETON L HUSON S THOMPSON E VINCENT A HAWKE S PRICE J SHIRLEY D BARNES P NEWSOMDAVIS J
Citation: L. Brueton et al., MYASTHENIA-GRAVIS - AN IMPORTANT CAUSE OF THE PENA-SHOKEIR PHENOTYPE, Journal of Medical Genetics, 31(2), 1994, pp. 167-167
FIRST BRITISH MOLECULAR PRENATAL-DIAGNOSIS FOR LEPRECHAUNISM
Authors: BELL JA KROOK A BRUETON L GARRETT C RAHILLY S ROBERTSON ME
Citation: Ja. Bell et al., FIRST BRITISH MOLECULAR PRENATAL-DIAGNOSIS FOR LEPRECHAUNISM, Journal of Medical Genetics, 31(2), 1994, pp. 170-170
HOMOZYGOUS NONSENSE MUTATION IN THE INSULIN-RECEPTOR GENE IN INFANT WITH LEPRECHAUNISM
Authors: KROOK A BRUETON L ORAHILLY S
Citation: A. Krook et al., HOMOZYGOUS NONSENSE MUTATION IN THE INSULIN-RECEPTOR GENE IN INFANT WITH LEPRECHAUNISM, Lancet, 342(8866), 1993, pp. 277-278
HOMOZYGOUS NONSENSE MUTATION IN THE INSULIN-RECEPTOR GENE - IMPLICATIONS FOR THE ROLE OF THE INSULIN-RECEPTOR IN FETAL DEVELOPMENT
Authors: ORAHILLY S BRUETON L KROOK A
Citation: S. Orahilly et al., HOMOZYGOUS NONSENSE MUTATION IN THE INSULIN-RECEPTOR GENE - IMPLICATIONS FOR THE ROLE OF THE INSULIN-RECEPTOR IN FETAL DEVELOPMENT, Diabetologia, 36, 1993, pp. 10000052-10000052
MAPPING OF SAETHRE-CHOTZEN SYNDROME (ACS-III) TO 7P21
Authors: MALCOLM S ROSE CPS VANHERWERDEN L REARDON W BRUETON L WEISSENBACH J WINTER RM
Citation: S. Malcolm et al., MAPPING OF SAETHRE-CHOTZEN SYNDROME (ACS-III) TO 7P21, American journal of human genetics, 53(3), 1993, pp. 136-136
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