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Results: 1-21 |
Results: 21
METHYLMALONIC ACIDURIA (CBLF) - CASE-REPORT AND RESPONSE TO THERAPY
Authors: WAGGONER DJ UEDA K MANTIA C DOWTON SB
Citation: Dj. Waggoner et al., METHYLMALONIC ACIDURIA (CBLF) - CASE-REPORT AND RESPONSE TO THERAPY, American journal of medical genetics, 79(5), 1998, pp. 373-375
UNIQUE CARDIAC AND CEREBRAL ANOMALIES WITH CHONDRODYSPLASIA PUNCTATA
Authors: CISKE DJ WAGGONER DJ DOWTON SB
Citation: Dj. Ciske et al., UNIQUE CARDIAC AND CEREBRAL ANOMALIES WITH CHONDRODYSPLASIA PUNCTATA, American journal of medical genetics, 75(1), 1998, pp. 59-61
NEED FOR VELOPHARYNGEAL MANAGEMENT FOLLOWING PALATOPLASTY - AN OUTCOME ANALYSIS OF SYNDROMIC AND NONSYNDROMIC PATIENTS WITH ROBIN-SEQUENCE
Authors: WITT PD MYCKATYN T MARSH JL GRAMES LM DOWTON SB
Citation: Pd. Witt et al., NEED FOR VELOPHARYNGEAL MANAGEMENT FOLLOWING PALATOPLASTY - AN OUTCOME ANALYSIS OF SYNDROMIC AND NONSYNDROMIC PATIENTS WITH ROBIN-SEQUENCE, Plastic and reconstructive surgery, 99(6), 1997, pp. 1522-1529
SHPRINTZEN-GOLDBERG SYNDROME RESULTS FROM MUTATIONS IN FIBRILLIN-I, NOT MONOSOMY 22Q11 - REPLY
Authors: JOHNSON MC WATSON MS DOWTON SB STRAUSS AW
Citation: Mc. Johnson et al., SHPRINTZEN-GOLDBERG SYNDROME RESULTS FROM MUTATIONS IN FIBRILLIN-I, NOT MONOSOMY 22Q11 - REPLY, The Journal of pediatrics, 131(1), 1997, pp. 165-165
CHROMOSOME 18Q22.2-]QTER DELETION AND A CONGENITAL ANOMALY SYNDROME WITH MULTIPLE VERTEBRAL SEGMENTATION DEFECTS
Authors: DOWTON SB HING AV SHEENKANIECKI V WATSON MS
Citation: Sb. Dowton et al., CHROMOSOME 18Q22.2-]QTER DELETION AND A CONGENITAL ANOMALY SYNDROME WITH MULTIPLE VERTEBRAL SEGMENTATION DEFECTS, Journal of Medical Genetics, 34(5), 1997, pp. 414-417
SERUM AMYLOID-A GENE-EXPRESSION IN RABBIT, MINK AND MOUSE
Authors: MARHAUG G HACKETT B DOWTON SB
Citation: G. Marhaug et al., SERUM AMYLOID-A GENE-EXPRESSION IN RABBIT, MINK AND MOUSE, Clinical and experimental immunology, 107(2), 1997, pp. 425-434
A NOVEL MISSENSE MUTATION IN THE EXON CONTAINING THE PUTATIVE ORNITHINE-BINDING DOMAIN OF THE OTC ENZYME IN A FEMALE
Authors: DEMMER LA KIM JM DEMARTINVILLE B DOWTON SB
Citation: La. Demmer et al., A NOVEL MISSENSE MUTATION IN THE EXON CONTAINING THE PUTATIVE ORNITHINE-BINDING DOMAIN OF THE OTC ENZYME IN A FEMALE, Human mutation, 7(3), 1996, pp. 279-279
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
RESPIRATORY COMPLICATIONS OF EHLERS-DANLOS SYNDROME TYPE-IV
Authors: DOWTON SB PINCOTT S DEMMER L
Citation: Sb. Dowton et al., RESPIRATORY COMPLICATIONS OF EHLERS-DANLOS SYNDROME TYPE-IV, Clinical genetics, 50(6), 1996, pp. 510-514
LINKAGE OF PREAXIAL POLYDACTYLY TYPE-2 TO 7Q36
Authors: HING AV HELMS C SLAUGH R BURGESS A WANG JC HERMAN T DOWTON SB DONISKELLER H
Citation: Av. Hing et al., LINKAGE OF PREAXIAL POLYDACTYLY TYPE-2 TO 7Q36, American journal of medical genetics, 58(2), 1995, pp. 128-135
DIAGNOSIS OF HUMAN HERITABLE DISEASES - LABORATORY APPROACHES AND OUTCOMES
Authors: DOWTON SB SLAUGH RA
Citation: Sb. Dowton et Ra. Slaugh, DIAGNOSIS OF HUMAN HERITABLE DISEASES - LABORATORY APPROACHES AND OUTCOMES, Clinical chemistry, 41(5), 1995, pp. 785-794
1994 CLINICAL CHEMISTRY FORUM - DISCUSSION
Authors: BURROWSHUDSON S WITHEILER A SILVERSTEIN M DAWSON N WITTE DL SHLAGOR C ERICKSON K SANTIAGO J SAGONA M DOWTON SB VALDES R SCOTT M SOLOWAY HB PINSON J
Citation: S. Burrowshudson et al., 1994 CLINICAL CHEMISTRY FORUM - DISCUSSION, Clinical chemistry, 41(5), 1995, pp. 813-816
DELETION WITHIN CHROMOSOME-22 IS COMMON IN PATIENTS WITH ABSENT PULMONARY VALVE SYNDROME
Authors: JOHNSON MC STRAUSS AW DOWTON SB SPRAY TL HUDDLESTON CB WOOD MK SLAUGH RA WATSON MS
Citation: Mc. Johnson et al., DELETION WITHIN CHROMOSOME-22 IS COMMON IN PATIENTS WITH ABSENT PULMONARY VALVE SYNDROME, The American journal of cardiology, 76(1), 1995, pp. 66-69
THE STUDY SPACE PROJECT - COLLABORATIVE HYPERMEDIA IN NOMADIC COMPUTING ENVIRONMENTS
Authors: SCHNASE JL CUNNIUS EL DOWTON SB
Citation: Jl. Schnase et al., THE STUDY SPACE PROJECT - COLLABORATIVE HYPERMEDIA IN NOMADIC COMPUTING ENVIRONMENTS, Communications of the ACM, 38(8), 1995, pp. 72-73
INTERHEMISPHERIC-TRANSFER IN CHILDREN WITH EARLY-TREATED PHENYLKETONURIA
Authors: GOUROVITCH ML CRAFT S DOWTON SB AMBROSE P SPARTA S
Citation: Ml. Gourovitch et al., INTERHEMISPHERIC-TRANSFER IN CHILDREN WITH EARLY-TREATED PHENYLKETONURIA, Neuropsychology, development, and cognition. Section A, Journal of clinical and experimental neuropsychology, 16(3), 1994, pp. 393-404
SERUM AMYLOID-A - AN ACUTE-PHASE APOLIPOPROTEIN AND PRECURSOR OF AA AMYLOID
Authors: MARHAUG G DOWTON SB
Citation: G. Marhaug et Sb. Dowton, SERUM AMYLOID-A - AN ACUTE-PHASE APOLIPOPROTEIN AND PRECURSOR OF AA AMYLOID, Bailliere's clinical rheumatology, 8(3), 1994, pp. 553-573
LESIONS IN OCULOCEREBRORENAL SYNDROME
Authors: WIPPOLD FJ DOWTON SB
Citation: Fj. Wippold et Sb. Dowton, LESIONS IN OCULOCEREBRORENAL SYNDROME, American journal of neuroradiology, 15(9), 1994, pp. 1797-1797
SCHINZEL-GIEDION SYNDROME AND CONGENITAL MEGACALYCES
Authors: HERMAN TE SWEETSER DA MCALISTER WH DOWTON SB
Citation: Te. Herman et al., SCHINZEL-GIEDION SYNDROME AND CONGENITAL MEGACALYCES, Pediatric radiology, 23(2), 1993, pp. 111-112
SERUM AMYLOID-P COMPONENT OF THE ARMENIAN HAMSTER - GENE STRUCTURE AND COMPARISON WITH STRUCTURE AND EXPRESSION OF THE SAP GENE FROM SYRIAN-HAMSTER
Authors: RUDNICK CM DOWTON SB
Citation: Cm. Rudnick et Sb. Dowton, SERUM AMYLOID-P COMPONENT OF THE ARMENIAN HAMSTER - GENE STRUCTURE AND COMPARISON WITH STRUCTURE AND EXPRESSION OF THE SAP GENE FROM SYRIAN-HAMSTER, Scandinavian journal of immunology, 38(5), 1993, pp. 445-450
FETUS IN FETU - MOLECULAR ANALYSIS OF A FETIFORM MASS
Authors: HING A CORTEVILLE J FOGLIA RP BLISS DP DONISKELLER H DOWTON SB
Citation: A. Hing et al., FETUS IN FETU - MOLECULAR ANALYSIS OF A FETIFORM MASS, American journal of medical genetics, 47(3), 1993, pp. 333-341
SERUM AMYLOID-P (FEMALE PROTEIN) OF THE SYRIAN-HAMSTER - GENE STRUCTURE AND EXPRESSION
Authors: RUDNICK CM DOWTON SB
Citation: Cm. Rudnick et Sb. Dowton, SERUM AMYLOID-P (FEMALE PROTEIN) OF THE SYRIAN-HAMSTER - GENE STRUCTURE AND EXPRESSION, The Journal of biological chemistry, 268(29), 1993, pp. 21760-21769
Risultati: 1-21 |