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Results: 1-16 |
Results: 16
TRP156TER MUTATION IN THE PAX6 GENE IN A FAMILY WITH ANIRIDIA
Authors: CHURCHILL AJ ANWAR R BOOTH AP AXTON R MARKHAM AF
Citation: Aj. Churchill et al., TRP156TER MUTATION IN THE PAX6 GENE IN A FAMILY WITH ANIRIDIA, Human mutation, 1998, pp. 326-326
PAX-6 IS NORMAL IN MOST CASES OF PETERS ANOMALY
Authors: CHURCHILL AJ BOOTH AP ANWAR R MARKHAM AF
Citation: Aj. Churchill et al., PAX-6 IS NORMAL IN MOST CASES OF PETERS ANOMALY, Eye, 12, 1998, pp. 299-303
NEW SPLICING MUTATIONS IN THE HUMAN FACTOR XIIIA GENE, EACH PRODUCINGMULTIPLE MUTANT TRANSCRIPTS OF VARYING ABUNDANCE
Authors: ANWAR R MILOSZEWSKI KJA MARKHAM AF
Citation: R. Anwar et al., NEW SPLICING MUTATIONS IN THE HUMAN FACTOR XIIIA GENE, EACH PRODUCINGMULTIPLE MUTANT TRANSCRIPTS OF VARYING ABUNDANCE, Thrombosis and haemostasis, 79(6), 1998, pp. 1151-1156
SPLICING AND MISSENSE MUTATIONS IN THE HUMAN FXIIIA GENE CAUSING FXIII DEFICIENCY - EFFECTS OF THESE MUTATIONS ON FXIIIA RNA PROCESSING ANDPROTEIN-STRUCTURE
Authors: ANWAR R GALLIVAN L MILOSZEWSKI KJA MARKHAM AF
Citation: R. Anwar et al., SPLICING AND MISSENSE MUTATIONS IN THE HUMAN FXIIIA GENE CAUSING FXIII DEFICIENCY - EFFECTS OF THESE MUTATIONS ON FXIIIA RNA PROCESSING ANDPROTEIN-STRUCTURE, British Journal of Haematology, 103(2), 1998, pp. 425-428
IDENTIFICATION OF A LARGE DELETION, SPANNING EXONS 4 TO 11 OF THE HUMAN FACTOR XIIIA GENE, IN A FACTOR XIII-DEFICIENT FAMILY
Authors: ANWAR R MILOSZEWSKI KJA MARKHAM AF
Citation: R. Anwar et al., IDENTIFICATION OF A LARGE DELETION, SPANNING EXONS 4 TO 11 OF THE HUMAN FACTOR XIIIA GENE, IN A FACTOR XIII-DEFICIENT FAMILY, Blood, 91(1), 1998, pp. 149-153
A NEW MUTATION IN THE HUMAN LIPOPROTEIN-LIPASE GENE CAUSING FAMILIAL HYPERCHYLOMICRONEMIA
Authors: ANWAR R PUNTIS JWL MARKHAM AF
Citation: R. Anwar et al., A NEW MUTATION IN THE HUMAN LIPOPROTEIN-LIPASE GENE CAUSING FAMILIAL HYPERCHYLOMICRONEMIA, Journal of clinical pathology-Molecular pathology, 50(4), 1997, pp. 221-223
MALE PSEUDOHERMAPHRODITISM RESULTING FROM A NOVEL MUTATION IN THE HUMAN STEROID 5-ALPHA-REDUCTASE TYPE-2 GENE (SRD5A2)
Authors: ANWAR R GILBEY SG NEW JP MARKHAM AF
Citation: R. Anwar et al., MALE PSEUDOHERMAPHRODITISM RESULTING FROM A NOVEL MUTATION IN THE HUMAN STEROID 5-ALPHA-REDUCTASE TYPE-2 GENE (SRD5A2), Journal of clinical pathology-Molecular pathology, 50(1), 1997, pp. 51-52
ASSIGNMENT OF INDIAN HEDGEHOG (IHH) TO HUMAN-CHROMOSOME BANDS 2Q33-]Q35 BY IN-SITU HYBRIDIZATION
Authors: LEEK JP MOYNIHAN TP ANWAR R BONTHRON DT MARKHAM AF LENCH NJ
Citation: Jp. Leek et al., ASSIGNMENT OF INDIAN HEDGEHOG (IHH) TO HUMAN-CHROMOSOME BANDS 2Q33-]Q35 BY IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 76(3-4), 1997, pp. 187-188
PAX-6 ANIRIDIA AND PETERS-ANOMALY
Authors: CHURCHILL AJ ANWAR R MARKHAM AF
Citation: Aj. Churchill et al., PAX-6 ANIRIDIA AND PETERS-ANOMALY, Investigative ophthalmology & visual science, 38(4), 1997, pp. 112-112
THE GENETICS OF PRIMARY OPEN-ANGLE GLAUCOMA
Authors: BOOTH A CHURCHILL A ANWAR R MENAGE M MARKHAM A
Citation: A. Booth et al., THE GENETICS OF PRIMARY OPEN-ANGLE GLAUCOMA, British journal of ophthalmology, 81(5), 1997, pp. 409-414
NOVEL PRIMER SPECIFIC FALSE TERMINATIONS DURING DNA-SEQUENCING REACTIONS - DANGER OF INACCURACY OF MUTATION ANALYSIS IN MOLECULAR DIAGNOSTICS
Authors: ANWAR R BOOTH A CHURCHILL AJ MARKHAM AF
Citation: R. Anwar et al., NOVEL PRIMER SPECIFIC FALSE TERMINATIONS DURING DNA-SEQUENCING REACTIONS - DANGER OF INACCURACY OF MUTATION ANALYSIS IN MOLECULAR DIAGNOSTICS, JCP. Clinical molecular pathology, 49(5), 1996, pp. 312-314
ASSESSMENT OF GENETIC-VARIABILITY IN HEXAPLOID WHEAT LANDRACES OF PAKISTAN BASED ON POLYMORPHISM FOR HMW GLUTENIN SUBUNITS
Authors: TAHIR M TURCHETTA T ANWAR R LAFIANDRA D
Citation: M. Tahir et al., ASSESSMENT OF GENETIC-VARIABILITY IN HEXAPLOID WHEAT LANDRACES OF PAKISTAN BASED ON POLYMORPHISM FOR HMW GLUTENIN SUBUNITS, Genetic resources and crop evolution, 43(3), 1996, pp. 211-220
IN-VITRO PRESERVATION OF POTATO (SOLANUM-TUBEROSUM L) GERMPLASM
Authors: SIDDIQUI SU CHAUDHARY MF ANWAR R
Citation: Su. Siddiqui et al., IN-VITRO PRESERVATION OF POTATO (SOLANUM-TUBEROSUM L) GERMPLASM, Pakistan journal of botany, 28(1), 1996, pp. 37-40
MOLECULAR ANALYSIS OF THE PRESENILIN-1 (S182) GENE IN SPORADIC CASES OF ALZHEIMERS-DISEASE - IDENTIFICATION AND CHARACTERIZATION OF UNUSUALSPLICE VARIANTS
Authors: ANWAR R MOYNIHAN TP ARDLEY H BRINDLE N COLETTA PL CAIRNS N MARKHAM AF ROBINSON PA
Citation: R. Anwar et al., MOLECULAR ANALYSIS OF THE PRESENILIN-1 (S182) GENE IN SPORADIC CASES OF ALZHEIMERS-DISEASE - IDENTIFICATION AND CHARACTERIZATION OF UNUSUALSPLICE VARIANTS, Journal of neurochemistry, 66(4), 1996, pp. 1774-1777
GENETIC DIFFERENTIATION OF RICE GERMPLASM COLLECTED IN NORTHERN PAKISTAN
Authors: KATSUTA M OKUNO K AFZAL M ANWAR R
Citation: M. Katsuta et al., GENETIC DIFFERENTIATION OF RICE GERMPLASM COLLECTED IN NORTHERN PAKISTAN, JARQ. Japan Agricultural Research Quarterly, 30(2), 1996, pp. 61-67
MOLECULAR-BASIS OF INHERITED FACTOR-XIII DEFICIENCY - IDENTIFICATION OF MULTIPLE MUTATIONS PROVIDES INSIGHTS INTO PROTEIN FUNCTION
Authors: ANWAR R STEWART AD MILOSZEWSKI KJA LOSOWSKY MS MARKHAM AF
Citation: R. Anwar et al., MOLECULAR-BASIS OF INHERITED FACTOR-XIII DEFICIENCY - IDENTIFICATION OF MULTIPLE MUTATIONS PROVIDES INSIGHTS INTO PROTEIN FUNCTION, British Journal of Haematology, 91(3), 1995, pp. 728-735
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