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Results: 1-8 |
Results: 8
PHENYLKETONURIA IN BRITAIN - GENETIC-ANALYSIS GIVES A HISTORICAL-PERSPECTIVE OF THE DISORDER BUT WILL IT PREDICT THE FUTURE FOR AFFECTED INDIVIDUALS
Authors: TYFIELD LA
Citation: La. Tyfield, PHENYLKETONURIA IN BRITAIN - GENETIC-ANALYSIS GIVES A HISTORICAL-PERSPECTIVE OF THE DISORDER BUT WILL IT PREDICT THE FUTURE FOR AFFECTED INDIVIDUALS, Journal of clinical pathology-Molecular pathology, 50(4), 1997, pp. 169-174
MUTATION ANALYSIS OF THE CONNEXIN-32 (CX32) GENE IN HMSN1 PATIENTS INTHE SOUTHWEST OF ENGLAND - IDENTIFICATION OF 2 POTENTIALLY NOVEL MUTATIONS
Authors: WILLIAMS M TYFIELD LA TURNPENNY PD STEVENS DL LUNT PW
Citation: M. Williams et al., MUTATION ANALYSIS OF THE CONNEXIN-32 (CX32) GENE IN HMSN1 PATIENTS INTHE SOUTHWEST OF ENGLAND - IDENTIFICATION OF 2 POTENTIALLY NOVEL MUTATIONS, Journal of Medical Genetics, 34, 1997, pp. 1419-1419
DIAGNOSTIC TESTING IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) REVEALS POSSIBLE 2-STEP MUTATION PROCESS
Authors: LUNT PW HILL H JARDINE PE KINGSTON H SCHAPIRA AVH NIGHTINGALE S TYFIELD LA
Citation: Pw. Lunt et al., DIAGNOSTIC TESTING IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) REVEALS POSSIBLE 2-STEP MUTATION PROCESS, American journal of human genetics, 61(4), 1997, pp. 1836-1836
SEQUENCE VARIATION AT THE PHENYLALANINE-HYDROXYLASE GENE IN THE BRITISH-ISLES
Authors: TYFIELD LA STEPHENSON A COCKBURN F HARVIE A BIDWELL JL WOOD NAP PILZ DT HARPER P SMITH I
Citation: La. Tyfield et al., SEQUENCE VARIATION AT THE PHENYLALANINE-HYDROXYLASE GENE IN THE BRITISH-ISLES, American journal of human genetics, 60(2), 1997, pp. 388-396
DISCORDANT PHENYLKETONURIA PHENOTYPES IN ONE FAMILY - THE RELATIONSHIP BETWEEN GENOTYPE AND CLINICAL OUTCOME IS A FUNCTION OF MULTIPLE EFFECTS
Authors: TYFIELD LA ZSCHOCKE J STEPHENSON A COCKBURN F HARVIE A BIDWELL JL WOOD NAP HUNT LP
Citation: La. Tyfield et al., DISCORDANT PHENYLKETONURIA PHENOTYPES IN ONE FAMILY - THE RELATIONSHIP BETWEEN GENOTYPE AND CLINICAL OUTCOME IS A FUNCTION OF MULTIPLE EFFECTS, Journal of Medical Genetics, 32(11), 1995, pp. 867-870
RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS
Authors: EISENSMITH RC GOLTSOV AA ONEILL C TYFIELD LA SCHWARTZ EI KUZMIN AI BARANOVSKAYA SS TSUKERMAN GL TREACY E SCRIVER CR GUTTLER F GULDBERG P EIKEN HG APOLD J SVENSSON E NAUGHTEN E CAHALANE SF CROKE DT COCKBURN F WOO SLC
Citation: Rc. Eisensmith et al., RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS, American journal of human genetics, 56(1), 1995, pp. 278-286
MUTATION ANALYSIS OF THE PHENYLALANINE-HYDROXYLASE GENE USING HETERODUPLEX ANALYSIS WITH SYNTHETIC DNA CONSTRUCTS
Authors: TYFIELD LA STEPHENSON A BIDWELL JL WOOD NAP COCKBURN F HARVIE A SMITH I
Citation: La. Tyfield et al., MUTATION ANALYSIS OF THE PHENYLALANINE-HYDROXYLASE GENE USING HETERODUPLEX ANALYSIS WITH SYNTHETIC DNA CONSTRUCTS, Acta paediatrica, 83, 1994, pp. 47-48
BIOCHEMICAL CONTROL, GENETIC-ANALYSIS AND MAGNETIC-RESONANCE-IMAGING IN PATIENTS WITH PHENYLKETONURIA
Authors: WALTER JH TYFIELD LA HOLTON JB JOHNSON C
Citation: Jh. Walter et al., BIOCHEMICAL CONTROL, GENETIC-ANALYSIS AND MAGNETIC-RESONANCE-IMAGING IN PATIENTS WITH PHENYLKETONURIA, European journal of pediatrics, 152(10), 1993, pp. 822-827
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