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Results: 1-20 |
Results: 20
GENE LOCALIZATION FOR AN AUTOSOMAL-DOMINANT FAMILIAL PERIODIC FEVER TO 12P13
Authors: MULLEY J SAAR K HEWITT G RUSCHENDORF F PHILLIPS H COLLEY A SILLENCE D REIS A WILSON M
Citation: J. Mulley et al., GENE LOCALIZATION FOR AN AUTOSOMAL-DOMINANT FAMILIAL PERIODIC FEVER TO 12P13, American journal of human genetics, 62(4), 1998, pp. 884-889
INTERNATIONAL NOMENCLATURE AND CLASSIFICATION OF THE OSTEOCHONDRODYSPLASIAS (1997)
Authors: RIMOIN DL FRANCOMANO CA GIEDION A HALL C KAITILA I COHN D GORLIN R HALL J HORTON W KRAKOW D LEMERRER M LACHMAN R MUNDLOS S POZNANSKI AK SILLENCE D SUPERTIFURGA A WILCOX W
Citation: Dl. Rimoin et al., INTERNATIONAL NOMENCLATURE AND CLASSIFICATION OF THE OSTEOCHONDRODYSPLASIAS (1997), American journal of medical genetics, 79(5), 1998, pp. 376-382
MEDICAL COMPLICATIONS OF ACHONDROPLASIA - A MULTICENTER PATIENT REVIEW
Authors: HUNTER AGW BANKIER A ROGERS JG SILLENCE D SCOTT CI
Citation: Agw. Hunter et al., MEDICAL COMPLICATIONS OF ACHONDROPLASIA - A MULTICENTER PATIENT REVIEW, Journal of Medical Genetics, 35(9), 1998, pp. 705-712
HUMAN AND CAPRINE MPS III-D PATHOGENESIS OF CNS DYSFUNCTION
Authors: JONES MZ ALROY J MITCHELLHERPOISHEIMER C ARIAS A SILLENCE D EVANS W ALVORD EC RUTLEDGE JC SHARP P HOPWOOD JJ
Citation: Mz. Jones et al., HUMAN AND CAPRINE MPS III-D PATHOGENESIS OF CNS DYSFUNCTION, Brain pathology, 7(4), 1997, pp. 1280-1280
CONTRIBUTION OF DNA-SEQUENCE AND CAG SIZE TO MUTATION FREQUENCIES OF INTERMEDIATE ALLELES FOR HUNTINGTON DISEASE - EVIDENCE FROM SINGLE SPERM ANALYSES
Authors: CHONG SS ALMQVIST E TELENIUS H LATRAY L NICHOL K BOURDELATPARKS B GOLDBERG YP HADDAD BR RICHARDS F SILLENCE D GREENBERG CR IVES E VANDENENGH G HUGHES MR HAYDEN MR
Citation: Ss. Chong et al., CONTRIBUTION OF DNA-SEQUENCE AND CAG SIZE TO MUTATION FREQUENCIES OF INTERMEDIATE ALLELES FOR HUNTINGTON DISEASE - EVIDENCE FROM SINGLE SPERM ANALYSES, Human molecular genetics, 6(2), 1997, pp. 301-309
ATELOSTEOGENESIS SYNDROMES - A REVIEW, WITH COMMENTS ON THEIR PATHOGENESIS
Authors: SILLENCE D WORTHINGTON S DIXON J OSBORN R KOZLOWSKI K
Citation: D. Sillence et al., ATELOSTEOGENESIS SYNDROMES - A REVIEW, WITH COMMENTS ON THEIR PATHOGENESIS, Pediatric radiology, 27(5), 1997, pp. 388-396
THE SUBCELLULAR SITES OF SPHINGOMYELIN SYNTHESIS IN BHK CELLS
Authors: OBRADORS MJM SILLENCE D HOWITT S ALLAN D
Citation: Mjm. Obradors et al., THE SUBCELLULAR SITES OF SPHINGOMYELIN SYNTHESIS IN BHK CELLS, Biochimica et biophysica acta. Molecular cell research, 1359(1), 1997, pp. 1-12
HUMAN MUCOPOLYSACCHARIDOSIS-IIID - CLINICAL, BIOCHEMICAL, MORPHOLOGICAL AND IMMUNOHISTOCHEMICAL CHARACTERISTICS
Authors: JONES MZ ALROY J RUTLEDGE JC TAYLOR JW ALVORD EC TOONE J APPLEGARTH D HOPWOOD JJ SKUTELSKY E IANELLI C THORLEYLAWSON D MITCHELLHERPOLSHEIMER C ARIAS A SHARP P EVANS W SILLENCE D CAVANAGH KT
Citation: Mz. Jones et al., HUMAN MUCOPOLYSACCHARIDOSIS-IIID - CLINICAL, BIOCHEMICAL, MORPHOLOGICAL AND IMMUNOHISTOCHEMICAL CHARACTERISTICS, Journal of neuropathology and experimental neurology, 56(10), 1997, pp. 1158-1167
GENE LOCALIZATION FOR AN AUTOSOMAL-DOMINANT FAMILIAL PERIODIC FEVER
Authors: MULLEY J SAAR K HEWITT G RUSCHENDORF F PHILLIPS H COLLEY A SILLENCE D REIS A WILSON M
Citation: J. Mulley et al., GENE LOCALIZATION FOR AN AUTOSOMAL-DOMINANT FAMILIAL PERIODIC FEVER, American journal of human genetics, 61(4), 1997, pp. 1672-1672
A HYPOTHESIS FOR THE FUNCTION OF COLLAGEN-X
Authors: CHEAH KSE KWAN KM PANG M ZHOU S COWAN SK KONG RYC PFORDTE T OLSEN BR SILLENCE D TAM PPL
Citation: Kse. Cheah et al., A HYPOTHESIS FOR THE FUNCTION OF COLLAGEN-X, Matrix biology, 15(3), 1996, pp. 162-162
INCREASED INSTABILITY OF INTERMEDIATE ALLELES IN FAMILIES WITH SPORADIC HUNTINGTON DISEASE COMPARED TO SIMILAR SIZED INTERMEDIATE ALLELES IN THE GENERAL-POPULATION
Authors: GOLDBERG YP MCMURRAY CT ZEISLER J ALMQVIST E SILLENCE D RICHARDS F GACY AM BUCHANAN J TELENIUS H HAYDEN MR
Citation: Yp. Goldberg et al., INCREASED INSTABILITY OF INTERMEDIATE ALLELES IN FAMILIES WITH SPORADIC HUNTINGTON DISEASE COMPARED TO SIMILAR SIZED INTERMEDIATE ALLELES IN THE GENERAL-POPULATION, Human molecular genetics, 4(10), 1995, pp. 1911-1918
GENETIC HOMOGENEITY OF CARTILAGE HAIR HYPOPLASIA
Authors: SULISALO T VANDERBURGT I RIMOIN DL BONAVENTURE J SILLENCE D CAMPBELL JB CHITAYAT D SCOTT CI DELACHAPELLE A SISTONEN P KAITILA I
Citation: T. Sulisalo et al., GENETIC HOMOGENEITY OF CARTILAGE HAIR HYPOPLASIA, Human genetics, 95(2), 1995, pp. 157-160
EARLY PRENATAL-DIAGNOSIS OF CARTILAGE-HAIR HYPOPLASIA (CHH) WITH POLYMORPHIC DNA MARKERS
Authors: SULISALO T SILLENCE D WILSON M RYYNANEN M KAITILA I
Citation: T. Sulisalo et al., EARLY PRENATAL-DIAGNOSIS OF CARTILAGE-HAIR HYPOPLASIA (CHH) WITH POLYMORPHIC DNA MARKERS, Prenatal diagnosis, 15(2), 1995, pp. 135-140
INCREASED INSTABILITY OF INTERMEDIATE ALLELES IN FAMILIES WITH SPORADIC HUNTINGTON DISEASE COMPARED TO INTERMEDIATE ALLELES IN THE GENERAL-POPULATION - IMPLICATIONS FOR GENETIC-COUNSELING
Authors: GOLDBERG YP ZIESLER J ALMQVIST E SILLENCE D RICHARDS F BUCHANAN J TELENIUS H HAYDEN MR
Citation: Yp. Goldberg et al., INCREASED INSTABILITY OF INTERMEDIATE ALLELES IN FAMILIES WITH SPORADIC HUNTINGTON DISEASE COMPARED TO INTERMEDIATE ALLELES IN THE GENERAL-POPULATION - IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 57(4), 1995, pp. 136-136
BONE-MINERAL DENSITY OF TOTAL-BODY, SPINE, AND FEMORAL-NECK IN CHILDREN AND YOUNG-ADULTS - A CROSS-SECTIONAL AND LONGITUDINAL-STUDY
Authors: LU PW BRIODY JN OGLE GD MORLEY K HUMPHRIES IRJ ALLEN J HOWMANGILES R SILLENCE D COWELL CT
Citation: Pw. Lu et al., BONE-MINERAL DENSITY OF TOTAL-BODY, SPINE, AND FEMORAL-NECK IN CHILDREN AND YOUNG-ADULTS - A CROSS-SECTIONAL AND LONGITUDINAL-STUDY, Journal of bone and mineral research, 9(9), 1994, pp. 1451-1458
CASE-REPORT-870 - DIAGNOSIS - SCHNECKENBECKEN-DYSPLASIA, POSSIBLY A NEW VARIANT
Authors: SILLENCE D DELPRADO W EDWARDS M KOZLOWSKI K
Citation: D. Sillence et al., CASE-REPORT-870 - DIAGNOSIS - SCHNECKENBECKEN-DYSPLASIA, POSSIBLY A NEW VARIANT, Skeletal radiology, 23(7), 1994, pp. 586-588
NOVEL KARYOTYPE IN THE ULLRICH-TURNER-SYNDROME - 45,X 46,X,R(X)/46,X,DIC(X) - INVESTIGATED WITH FLUORESCENCE IN-SITU HYBRIDIZATION/
Authors: ROBSON L JACKSON J COWELL C SILLENCE D SMITH A
Citation: L. Robson et al., NOVEL KARYOTYPE IN THE ULLRICH-TURNER-SYNDROME - 45,X 46,X,R(X)/46,X,DIC(X) - INVESTIGATED WITH FLUORESCENCE IN-SITU HYBRIDIZATION/, American journal of medical genetics, 50(3), 1994, pp. 251-254
X-LINKED MENTAL-RETARDATION WITH NONDELETIONAL ALPHA-THALASSEMIA (ATR-X) - FURTHER DELINEATION OF THE PHENOTYPE
Authors: OGLE R DESOUZA M CUNNINGHAM C KERR B SILLENCE D
Citation: R. Ogle et al., X-LINKED MENTAL-RETARDATION WITH NONDELETIONAL ALPHA-THALASSEMIA (ATR-X) - FURTHER DELINEATION OF THE PHENOTYPE, Journal of Medical Genetics, 31(3), 1994, pp. 245-247
SHORT STATURE, MENTAL-RETARDATION, CRANIOSYNOSTOSIS, KLIPPEL-FEIL SYNDROME, SCHEUERMAN KYPHOSIS, RIB GAPS AND OTHER DISTINCTIVE SKELETAL AND GENITAL ANOMALIES - A NEW SYNDROME
Authors: KOZLOWSKI K SILLENCE D TAYLOR F
Citation: K. Kozlowski et al., SHORT STATURE, MENTAL-RETARDATION, CRANIOSYNOSTOSIS, KLIPPEL-FEIL SYNDROME, SCHEUERMAN KYPHOSIS, RIB GAPS AND OTHER DISTINCTIVE SKELETAL AND GENITAL ANOMALIES - A NEW SYNDROME, Pediatric radiology, 23(6), 1993, pp. 442-445
BREATHING ABNORMALITIES IN SLEEP IN ACHONDROPLASIA
Authors: WATERS KA EVERETT F SILLENCE D FAGAN E SULLIVAN CE
Citation: Ka. Waters et al., BREATHING ABNORMALITIES IN SLEEP IN ACHONDROPLASIA, Archives of Disease in Childhood, 69(2), 1993, pp. 191-196
Risultati: 1-20 |