ACNP - Italian Periodicals Catalogue

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Results: 1-10 |

Results: 10

HOLT-ORAM-SYNDROME AND CARDIAC DEVELOPMENT

Authors: BROOK JD YI CH",ARMSTRONGBUISSERET,"PACKHAM E GHOSH T CHING C CROSS S NEWBURYECOB R

Citation: Jd. Brook et al., HOLT-ORAM-SYNDROME AND CARDIAC DEVELOPMENT, European journal of human genetics, 6, 1998, pp. 13-13

SKELETAL DYSPLASIA - EXPANDING THE PHENOTYPE OF KEARNS-SAYRE-SYNDROME

Authors: NEWBURYECOB R TYRELL JC POULTON J

Citation: R. Newburyecob et al., SKELETAL DYSPLASIA - EXPANDING THE PHENOTYPE OF KEARNS-SAYRE-SYNDROME, European journal of human genetics, 6, 1998, pp. 1118-1118

ATELOSTEOGENESIS TYPE-2

Authors: NEWBURYECOB R

Citation: R. Newburyecob, ATELOSTEOGENESIS TYPE-2, Journal of Medical Genetics, 35(1), 1998, pp. 49-53

TBOX GENES AND THE HOLT-ORAM-SYNDROME

Authors: NEWBURYECOB R

Citation: R. Newburyecob, TBOX GENES AND THE HOLT-ORAM-SYNDROME, Journal of Medical Genetics, 34, 1997, pp. 30-30

CLINICAL AND MOLECULAR-GENETIC ANALYSIS OF PATIENTS WITH BARTH-SYNDROME

Authors: CANTLAY AM MARTIN RP HAYES AM LUNT PW STEWARD CG NEWBURYECOB R

Citation: Am. Cantlay et al., CLINICAL AND MOLECULAR-GENETIC ANALYSIS OF PATIENTS WITH BARTH-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 516-516

A TRANSLOCATION AT 12Q2 REFINES THE INTERVAL CONTAINING THE HOLT-ORAMSYNDROME-1 GENE

Authors: TERRETT JA NEWBURYECOB R SMITH NM LI QY GARRETT C COX P BONNET D LYONNET S MUNNICH A BUCKLER AJ BROOK JD

Citation: Ja. Terrett et al., A TRANSLOCATION AT 12Q2 REFINES THE INTERVAL CONTAINING THE HOLT-ORAMSYNDROME-1 GENE, American journal of human genetics, 59(6), 1996, pp. 1337-1341

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

HOLT-GRAM SYNDROME IS A GENETICALLY HETEROGENEOUS DISEASE WITH ONE LOCUS MAPPING TO HUMAN-CHROMOSOME 12Q

Authors: TERRETT JA NEWBURYECOB R CROSS GS FENTON I RAEBURN JA YOUNG ID BROOK JD

Citation: Ja. Terrett et al., HOLT-GRAM SYNDROME IS A GENETICALLY HETEROGENEOUS DISEASE WITH ONE LOCUS MAPPING TO HUMAN-CHROMOSOME 12Q, Nature genetics, 6(4), 1994, pp. 401-404

CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY ASSOCIATED WITH NAIL HYPOPLASIA

Authors: STIRLING R PITTS J GALLOWAY NR ROBSON K NEWBURYECOB R

Citation: R. Stirling et al., CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY ASSOCIATED WITH NAIL HYPOPLASIA, British journal of ophthalmology, 78(1), 1994, pp. 77-78

MANIFESTING HETEROZYGOSITY IN NORRIES-DISEASE

Authors: WOODRUFF G NEWBURYECOB R PLAHA DS YOUNG ID

Citation: G. Woodruff et al., MANIFESTING HETEROZYGOSITY IN NORRIES-DISEASE, British journal of ophthalmology, 77(12), 1993, pp. 813-814

Risultati: 1-10 |