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Results: 1-20 |
Results: 20
DEPENDENCE OF MCRBC CLEAVAGE ON DISTANCE BETWEEN RECOGNITION ELEMENTS
Authors: STEWART FJ RALEIGH EA
Citation: Fj. Stewart et Ea. Raleigh, DEPENDENCE OF MCRBC CLEAVAGE ON DISTANCE BETWEEN RECOGNITION ELEMENTS, Biological chemistry, 379(4-5), 1998, pp. 611-616
EARLY AMNIOCENTESIS - EFFECT OF REMOVING A REDUCED VOLUME OF AMNIOTIC-FLUID ON PREGNANCY OUTCOME
Authors: THARMARATNAM S SADEK S STEELE EK HARPER MA STEWART FJ NEVIN J NEVIN NC DORNAN JC
Citation: S. Tharmaratnam et al., EARLY AMNIOCENTESIS - EFFECT OF REMOVING A REDUCED VOLUME OF AMNIOTIC-FLUID ON PREGNANCY OUTCOME, Prenatal diagnosis, 18(8), 1998, pp. 773-778
PLANTAR LIPOMATOSIS, UNUSUAL FACIAL PHENOTYPE AND DEVELOPMENTAL DELAY- A NEW MCA MR SYNDROME/
Authors: PIERPONT MEM STEWART FJ GORLIN RJ
Citation: Mem. Pierpont et al., PLANTAR LIPOMATOSIS, UNUSUAL FACIAL PHENOTYPE AND DEVELOPMENTAL DELAY- A NEW MCA MR SYNDROME/, American journal of medical genetics, 75(1), 1998, pp. 18-21
PREVALENCE OF TUBEROUS SCLEROSIS IN UK
Authors: MORRISON PJ SHEPHERD CH STEWART FJ NEVIN NC
Citation: Pj. Morrison et al., PREVALENCE OF TUBEROUS SCLEROSIS IN UK, Lancet, 352(9124), 1998, pp. 318-319
CONFIDENTIAL INQUIRY INTO FAMILIES WITH 2 SIBLINGS WITH CYSTIC-FIBROSIS
Authors: MORRISON PJ STEWART FJ MAGEE AC NEVIN NC
Citation: Pj. Morrison et al., CONFIDENTIAL INQUIRY INTO FAMILIES WITH 2 SIBLINGS WITH CYSTIC-FIBROSIS, Archives of Disease in Childhood, 78(6), 1998, pp. 578-578
AUTOPSY FINDINGS IN THE WOLCOTT-RALLISON-SYNDROME
Authors: THORNTON CM CARSON DJ STEWART FJ
Citation: Cm. Thornton et al., AUTOPSY FINDINGS IN THE WOLCOTT-RALLISON-SYNDROME, PEDIATRIC PATHOLOGY & LABORATORY MEDICINE, 17(3), 1997, pp. 487-496
FOCAL DERMAL HYPOPLASIA (GOLTZ-SYNDROME) ASSOCIATED WITH INTESTINAL MALROTATION AND MEDIASTINAL DEXTROPOSITION
Authors: IRVINE AD STEWART FJ BINGHAM EA NEVIN NC BOSTON VE
Citation: Ad. Irvine et al., FOCAL DERMAL HYPOPLASIA (GOLTZ-SYNDROME) ASSOCIATED WITH INTESTINAL MALROTATION AND MEDIASTINAL DEXTROPOSITION, American journal of medical genetics, 62(3), 1996, pp. 213-215
AN AUTOSOMAL-DOMINANT SYNDROME OF ACROMEGALOID FACIAL APPEARANCE AND GENERALIZED HYPERTRICHOSIS TERMINALIS
Authors: IRVINE AD DOLAN OM HADDEN DR STEWART FJ BINGHAM EA NEVIN NC
Citation: Ad. Irvine et al., AN AUTOSOMAL-DOMINANT SYNDROME OF ACROMEGALOID FACIAL APPEARANCE AND GENERALIZED HYPERTRICHOSIS TERMINALIS, Journal of Medical Genetics, 33(11), 1996, pp. 972-974
WOLCOTT-RALLISON SYNDROME-ASSOCIATED WITH CONGENITAL-MALFORMATIONS AND A MOSAIC DELETION 15Q-11-12
Authors: STEWART FJ CARSON DJ THOMAS PS HUMPHREYS M THORNTON C NEVIN NC
Citation: Fj. Stewart et al., WOLCOTT-RALLISON SYNDROME-ASSOCIATED WITH CONGENITAL-MALFORMATIONS AND A MOSAIC DELETION 15Q-11-12, Clinical genetics, 49(3), 1996, pp. 152-155
PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME
Authors: STEWART FJ NEVIN NC DORNAN JC
Citation: Fj. Stewart et al., PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME, American journal of medical genetics, 56(3), 1995, pp. 286-287
THE POPULATION-GENETICS OF PHENYLKETONURIA IN NORTHERN-IRELAND
Authors: ZSCHOCKE J GRAHAM CA MALLORY JP STEWART FJ CARSON DJ NEVIN NC
Citation: J. Zschocke et al., THE POPULATION-GENETICS OF PHENYLKETONURIA IN NORTHERN-IRELAND, Journal of Medical Genetics, 32(2), 1995, pp. 143-143
COMPARISON OF GENOTYPE AND PHENOTYPE IN NORTHERN-IRELAND PKU PATIENTSHOMOZYGOUS FOR THE MUTATIONS R408W, I65T, AND R408Q
Authors: STEWART FJ ZSCHOCKE J CARSON D GRAHAM C GREER A
Citation: Fj. Stewart et al., COMPARISON OF GENOTYPE AND PHENOTYPE IN NORTHERN-IRELAND PKU PATIENTSHOMOZYGOUS FOR THE MUTATIONS R408W, I65T, AND R408Q, Journal of Medical Genetics, 32(2), 1995, pp. 147-147
NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA IN NORTHERN-IRELAND - FREQUENT MUTATION ALLOWS SCREENING AND EARLY DIAGNOSIS
Authors: ZSCHOCKE J GRAHAM CA STEWART FJ CARSON DJ NEVIN NC
Citation: J. Zschocke et al., NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA IN NORTHERN-IRELAND - FREQUENT MUTATION ALLOWS SCREENING AND EARLY DIAGNOSIS, Human mutation, 4(2), 1994, pp. 114-118
SUBFERTILITY IN MEN - CONGENITAL ABNORMALITY MAY PLAY A PART
Authors: STEWART FJ HILL AJ
Citation: Fj. Stewart et Aj. Hill, SUBFERTILITY IN MEN - CONGENITAL ABNORMALITY MAY PLAY A PART, BMJ. British medical journal, 309(6961), 1994, pp. 1085-1085
AUTOMATED SEQUENCING DETECTS ALL MUTATIONS IN NORTHERN IRISH PATIENTSWITH PHENYLKETONURIA AND MILD HYPERPHENYLALANINEMIA
Authors: ZSCHOCKE J GRAHAM CA STEWART FJ CARSON DJ NEVIN NC
Citation: J. Zschocke et al., AUTOMATED SEQUENCING DETECTS ALL MUTATIONS IN NORTHERN IRISH PATIENTSWITH PHENYLKETONURIA AND MILD HYPERPHENYLALANINEMIA, Acta paediatrica, 83, 1994, pp. 37-38
MOLECULAR INVESTIGATION OF PATIENTS WITH PRADER-WILLI-SYNDROME
Authors: STEWART FJ HUGHES AE NEVIN NC
Citation: Fj. Stewart et al., MOLECULAR INVESTIGATION OF PATIENTS WITH PRADER-WILLI-SYNDROME, Ulster medical journal, 63(1), 1994, pp. 122-122
NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA MUTATIONS IN NORTHERN-IRELAND
Authors: ZSCHOCKER J GRAHAM CA STEWART FJ CARSON DJ NEVIN NC
Citation: J. Zschocker et al., NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA MUTATIONS IN NORTHERN-IRELAND, Journal of Medical Genetics, 31(2), 1994, pp. 163-163
MICROCEPHALY WITH LARGE ANTERIOR FONTANELLE, GENERALIZED CONVULSIONS,MICROPENIS, AND DISTINCT ANOMALIES OF THE HANDS AND FEET - ANOTHER EXAMPLE OF WIEDEMANN SYNDROME
Authors: NEVIN NC STEWART FJ CORKEY CWB BELL BA
Citation: Nc. Nevin et al., MICROCEPHALY WITH LARGE ANTERIOR FONTANELLE, GENERALIZED CONVULSIONS,MICROPENIS, AND DISTINCT ANOMALIES OF THE HANDS AND FEET - ANOTHER EXAMPLE OF WIEDEMANN SYNDROME, Clinical genetics, 46(2), 1994, pp. 205-208
POLAND ANOMALY WITH A LIMB BODY WALL DISRUPTION DEFECT
Authors: STEWART FJ NEVIN NC BOSTON VE
Citation: Fj. Stewart et al., POLAND ANOMALY WITH A LIMB BODY WALL DISRUPTION DEFECT, American journal of medical genetics, 46(3), 1993, pp. 350-350
BILATERAL VOCAL CORD PARALYSIS IN WILLIAMS-SYNDROME
Authors: STEWART FJ DALZELL M MCREID M CINNAMOND MJ
Citation: Fj. Stewart et al., BILATERAL VOCAL CORD PARALYSIS IN WILLIAMS-SYNDROME, Clinical genetics, 44(3), 1993, pp. 164-165
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