ACNP - Italian Periodicals Catalogue

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Results: 1-18 |

Results: 18

STABLE-ISOTOPE STUDIES OF METHIONINE METABOLISM IN HOMOCYSTINURIA

Authors: BARSHOP BA STEINER RD

Citation: Ba. Barshop et Rd. Steiner, STABLE-ISOTOPE STUDIES OF METHIONINE METABOLISM IN HOMOCYSTINURIA, Journal of investigative medicine, 46(1), 1998, pp. 130-130

BILATERAL RADIAL RAY HYPOPLASIA WITH MULTIPLE EPIPHYSEAL DYSPLASIA

Authors: EDDY MC STEINER RD MCALISTER WH WHYTE MP

Citation: Mc. Eddy et al., BILATERAL RADIAL RAY HYPOPLASIA WITH MULTIPLE EPIPHYSEAL DYSPLASIA, American journal of medical genetics, 77(3), 1998, pp. 182-187

SHAKEN BABY SYNDROME - A FORENSIC PEDIATRIC RESPONSE

Authors: CHADWICK DL KIRSCHNER RH REECE RM RICCI LR ALEXANDER R AMAYA M BAYS JA BECHTEL K BELTRANCOKER R BERKOWITZ CD BLATT SD BOTASH AS BROWN J CARRASCO M CHRISTIAN C CLYNE P COURY DL CRAWFORD J CUNNINGHAM N DEBELLIS MD DERAUF C DETRIQUET J DREYER BP DUBOWITZ H FELDMAN KW FINKEL MA FLAHERTY EG FRASIER L GARI L GLICK J GRANT P FORTIN G HALPERT S HICKS RA HUYER D JENNY C JOFFE M KAIRYS SW KAPLAN KM KAUFHOLD M KEMPER KJ KRANE EJ KROUS H LORAND M MCCANN J MIAN M MORAN K OSBORN LM PALUSCI V RADKOWSKI MA RIMSZA ME RUNYAN D RYAN M SADOF MD SCHUBERT C SEGE R SHAPIRO RA SIEGEL B SIROTNAK A SMITH W SOCOLAR R SOTER D STARLING SP STASHWICK C STEINER RD STIRLING J SUGAR N TRUMAN T TURKEWITZ D WANG C WHITWORTH JM ZENEL JA

Citation: Dl. Chadwick et al., SHAKEN BABY SYNDROME - A FORENSIC PEDIATRIC RESPONSE, Pediatrics, 101(2), 1998, pp. 321-323

INTERFERENCES IN GLUCOSE METER MEASUREMENT IN PEDIATRIC SETTINGS

Authors: LANDT M WILHITE TR MILLER R SMITH CH STEINER RD

Citation: M. Landt et al., INTERFERENCES IN GLUCOSE METER MEASUREMENT IN PEDIATRIC SETTINGS, Clinical chemistry, 44, 1998, pp. 61-61

MUTATIONS IN THE HUMAN STEROL DELTA(7)-REDUCTASE GENE AT 11Q12-13 CAUSE SMITH-LEMLI-OPITZ-SYNDROME

Authors: WASSIF CA MASLEN C KACHILELELINJEWILE S LIN D LINCK LM CONNOR WE STEINER RD PORTER FD

Citation: Ca. Wassif et al., MUTATIONS IN THE HUMAN STEROL DELTA(7)-REDUCTASE GENE AT 11Q12-13 CAUSE SMITH-LEMLI-OPITZ-SYNDROME, American journal of human genetics, 63(1), 1998, pp. 55-62

BLACK-CHILDREN DEFICIENT IN GALACTOSE 1-PHOSPHATE URIDYLTRANSFERASE -CORRELATION OF ACTIVITY, AND IMMUNOREACTIVE PROTEIN IN ERYTHROCYTES AND LEUKOCYTES

Authors: LANDT M RITTER D LAI K BENKE PJ ELSAS LJ STEINER RD

Citation: M. Landt et al., BLACK-CHILDREN DEFICIENT IN GALACTOSE 1-PHOSPHATE URIDYLTRANSFERASE -CORRELATION OF ACTIVITY, AND IMMUNOREACTIVE PROTEIN IN ERYTHROCYTES AND LEUKOCYTES, The Journal of pediatrics, 130(6), 1997, pp. 972-980

SYSTEMATIC OPHTHALMOLOGIC EXAMINATION IN 6 PATIENTS AND A SPONTANEOUSLY ABORTED FETUS WITH SMITH-LEMLI-OPITZ-SYNDROME

Authors: ATCHANEEYASAKUL L LINCK LM CONNOR WE WELEBER RG STEINER RD

Citation: L. Atchaneeyasakul et al., SYSTEMATIC OPHTHALMOLOGIC EXAMINATION IN 6 PATIENTS AND A SPONTANEOUSLY ABORTED FETUS WITH SMITH-LEMLI-OPITZ-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 503-503

FAMILIAL 46,XX TRUE HERMAPHRODITISM

Authors: EDDY MC HOLLANDER AS CAPLEN DE HEUTTNER PC WATSON MS POPOVICH B STEINER RD

Citation: Mc. Eddy et al., FAMILIAL 46,XX TRUE HERMAPHRODITISM, American journal of human genetics, 61(4), 1997, pp. 537-537

FETAL DEMISE WITH SMITH-LEMLI-OPITZ-SYNDROME CONFIRMED BY TISSUE STEROL ANALYSIS AND ASSAY OF ERGOSTEROL CONVERSION TO BRASSICASTEROL IN CHORIONIC VILLUS CELLS

Authors: LINCK LM HAYFLICK SJ LIN D HONDA M HONDA A SALEN G TINT GS CONNOR WE STEINER RD

Citation: Lm. Linck et al., FETAL DEMISE WITH SMITH-LEMLI-OPITZ-SYNDROME CONFIRMED BY TISSUE STEROL ANALYSIS AND ASSAY OF ERGOSTEROL CONVERSION TO BRASSICASTEROL IN CHORIONIC VILLUS CELLS, American journal of human genetics, 61(4), 1997, pp. 1493-1493

BIOCHEMICAL AND MOLECULAR-BASIS FOR THE AFRICAN-AMERICAN VARIANT OF GALACTOSEMIA

Authors: STEINER RD RITTER D LAI K BENKE PJ ELSAS LJ LANDT M

Citation: Rd. Steiner et al., BIOCHEMICAL AND MOLECULAR-BASIS FOR THE AFRICAN-AMERICAN VARIANT OF GALACTOSEMIA, Pediatric research, 39(4), 1996, pp. 873-873

STUDIES OF COLLAGEN-SYNTHESIS AND STRUCTURE IN THE DIFFERENTIATION OFCHILD-ABUSE FROM OSTEOGENESIS IMPERFECTA

Authors: STEINER RD PEPIN M BYERS PH

Citation: Rd. Steiner et al., STUDIES OF COLLAGEN-SYNTHESIS AND STRUCTURE IN THE DIFFERENTIATION OFCHILD-ABUSE FROM OSTEOGENESIS IMPERFECTA, The Journal of pediatrics, 128(4), 1996, pp. 542-547

NONKETOTIC HYPERGLYCINEMIA - ATYPICAL CLINICAL AND BIOCHEMICAL MANIFESTATIONS

Authors: STEINER RD SWEETSER DA ROHRBAUGH JR DOWTON SB TOONE JR APPLEGARTH DA

Citation: Rd. Steiner et al., NONKETOTIC HYPERGLYCINEMIA - ATYPICAL CLINICAL AND BIOCHEMICAL MANIFESTATIONS, The Journal of pediatrics, 128(2), 1996, pp. 243-246

ASP187ASN MUTATION OF GELSOLIN IN AN AMERICAN KINDRED WITH FAMILIAL AMYLOIDOSIS, FINNISH TYPE (FAP-IV)

Authors: STEINER RD PAUNIO T UEMICHI T EVANS JP BENSON MD

Citation: Rd. Steiner et al., ASP187ASN MUTATION OF GELSOLIN IN AN AMERICAN KINDRED WITH FAMILIAL AMYLOIDOSIS, FINNISH TYPE (FAP-IV), Human genetics, 95(3), 1995, pp. 327-330

OPHTHALMIC ABNORMALITIES IN MOLYBDENUM COFACTOR DEFICIENCY AND ISOLATED SULFITE OXIDASE DEFICIENCY

Authors: LUEDER GT STEINER RD

Citation: Gt. Lueder et Rd. Steiner, OPHTHALMIC ABNORMALITIES IN MOLYBDENUM COFACTOR DEFICIENCY AND ISOLATED SULFITE OXIDASE DEFICIENCY, Journal of pediatric ophthalmology and strabismus, 32(5), 1995, pp. 334-337

KLIPPEL-TRENAUNAY-WEBER-SYNDROME ASSOCIATED WITH A 5 11 BALANCED TRANSLOCATION/

Authors: WHELAN AJ WATSON MS PORTER FD STEINER RD

Citation: Aj. Whelan et al., KLIPPEL-TRENAUNAY-WEBER-SYNDROME ASSOCIATED WITH A 5 11 BALANCED TRANSLOCATION/, American journal of medical genetics, 59(4), 1995, pp. 492-494

HYDROPS-FETALIS - ROLE OF THE GENETICIST

Authors: STEINER RD

Citation: Rd. Steiner, HYDROPS-FETALIS - ROLE OF THE GENETICIST, Seminars in perinatology, 19(6), 1995, pp. 516-524

CORNEAL ABNORMALITIES IN A MOTHER AND DAUGHTER WITH FOCAL DERMAL HYPOPLASIA (GOLTZ-GORLIN SYNDROME)

Authors: LUEDER GT STEINER RD

Citation: Gt. Lueder et Rd. Steiner, CORNEAL ABNORMALITIES IN A MOTHER AND DAUGHTER WITH FOCAL DERMAL HYPOPLASIA (GOLTZ-GORLIN SYNDROME), American journal of ophthalmology, 120(2), 1995, pp. 256-258

A NOVEL MUTATION IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE CAUSES SUDDENNEONATAL DEATH

Authors: BRACKETT JC SIMS HF STEINER RD NUNGE M ZIMMERMAN EM DEMARTINVILLE B RINALDO P SLAUGH R STRAUSS AW

Citation: Jc. Brackett et al., A NOVEL MUTATION IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE CAUSES SUDDENNEONATAL DEATH, The Journal of clinical investigation, 94(4), 1994, pp. 1477-1483

Risultati: 1-18 |