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Results: 1-11 |
Results: 11
THE BIOCHEMICAL AND MOLECULAR-SPECTRUM OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Authors: TUCHMAN M MORIZONO H RAJAGOPAL BS PLANTE RJ ALLEWELL NM
Citation: M. Tuchman et al., THE BIOCHEMICAL AND MOLECULAR-SPECTRUM OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY, Journal of inherited metabolic disease, 21, 1998, pp. 40-58
CLINICAL AND BIOCHEMICAL HETEROGENEITY IN FEMALES OF A LARGE PEDIGREEWITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY DUE TO THE R141Q MUTATION (VOL 66, PG 311, 1996)
Authors: AHRENS MJ BERRY SA WHITLEY CB MARKOWITZ DJ PLANTE RJ TUCHMAN M
Citation: Mj. Ahrens et al., CLINICAL AND BIOCHEMICAL HETEROGENEITY IN FEMALES OF A LARGE PEDIGREEWITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY DUE TO THE R141Q MUTATION (VOL 66, PG 311, 1996), American journal of medical genetics, 71(1), 1997, pp. 125-125
IDENTIFICATION OF PRIVATE MUTATIONS IN PATIENTS WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Authors: TUCHMAN M MORIZONO H RAJAGOPAL BS PLANTE RJ ALLEWELL NM
Citation: M. Tuchman et al., IDENTIFICATION OF PRIVATE MUTATIONS IN PATIENTS WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY, Journal of inherited metabolic disease, 20(4), 1997, pp. 525-527
RELATIVE FREQUENCY OF MUTATIONS CAUSING ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN 78 FAMILIES
Authors: TUCHMAN M PLANTE RJ GARCIAPEREZ MA RUBIO V
Citation: M. Tuchman et al., RELATIVE FREQUENCY OF MUTATIONS CAUSING ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN 78 FAMILIES, Human genetics, 97(3), 1996, pp. 274-276
CLINICAL AND BIOCHEMICAL HETEROGENEITY IN FEMALES OF A LARGE PEDIGREEWITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY DUE TO THE R141Q MUTATION
Authors: AHRENS MJ BERRY SA WHITLEY CB MARKOWITZ DJ PLANTE RJ TUCHMAN M
Citation: Mj. Ahrens et al., CLINICAL AND BIOCHEMICAL HETEROGENEITY IN FEMALES OF A LARGE PEDIGREEWITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY DUE TO THE R141Q MUTATION, American journal of medical genetics, 66(3), 1996, pp. 311-315
MUTATIONS AND POLYMORPHISMS IN THE HUMAN ORNITHINE TRANSCARBAMYLASE GENE - MUTATION UPDATE ADDENDUM
Authors: TUCHMAN M PLANTE RJ
Citation: M. Tuchman et Rj. Plante, MUTATIONS AND POLYMORPHISMS IN THE HUMAN ORNITHINE TRANSCARBAMYLASE GENE - MUTATION UPDATE ADDENDUM, Human mutation, 5(4), 1995, pp. 293-295
MOLECULAR TESTING OF FAMILIES WITH ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY
Authors: GUARDAMAGNA O PLANTE RJ SPADA N PARINI R TUCHMAN M
Citation: O. Guardamagna et al., MOLECULAR TESTING OF FAMILIES WITH ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1024-1024
RELATIVE FREQUENCY OR MUTATIONS IN 67 FAMILIES WITH ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY
Authors: TUCHMAN M PLANTE RJ
Citation: M. Tuchman et Rj. Plante, RELATIVE FREQUENCY OR MUTATIONS IN 67 FAMILIES WITH ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1052-1052
7 NEW MUTATIONS IN THE HUMAN ORNITHINE TRANSCARBAMYLASE GENE
Authors: TUCHMAN M PLANTE RJ MCCANN MT QURESHI AA
Citation: M. Tuchman et al., 7 NEW MUTATIONS IN THE HUMAN ORNITHINE TRANSCARBAMYLASE GENE, Human mutation, 4(1), 1994, pp. 57-60
THE ORNITHINE TRANSCARBAMYLASE GENE - NEW PRIVATE MUTATIONS IN 4 PATIENTS AND STUDY OF A POLYMORPHISM
Authors: TUCHMAN M PLANTE RJ GIGUERE Y LEMIEUX B
Citation: M. Tuchman et al., THE ORNITHINE TRANSCARBAMYLASE GENE - NEW PRIVATE MUTATIONS IN 4 PATIENTS AND STUDY OF A POLYMORPHISM, Human mutation, 3(3), 1994, pp. 318-320
4 NEW MUTATIONS IN THE ORNITHINE TRANSCARBAMYLASE GENE
Authors: REISH O PLANTE RJ TUCHMAN M
Citation: O. Reish et al., 4 NEW MUTATIONS IN THE ORNITHINE TRANSCARBAMYLASE GENE, Biochemical medicine and metabolic biology, 50(2), 1993, pp. 169-175
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