AAAAAA

   
Results: 1-21 |
Results: 21
GENETIC-HETEROGENEITY OF ADRENOCORTICOTROPIN (ACTH) RESISTANCE SYNDROMES - IDENTIFICATION OF A NOVEL MUTATION OF THE ACTH RECEPTOR GENE IN HEREDITARY GLUCOCORTICOID DEFICIENCY
Authors: WU SM STRATAKIS CA CHAN CHY HALLERMEIER KM BOURDONY CJ RENNERT OM CHAN WY
Citation: Sm. Wu et al., GENETIC-HETEROGENEITY OF ADRENOCORTICOTROPIN (ACTH) RESISTANCE SYNDROMES - IDENTIFICATION OF A NOVEL MUTATION OF THE ACTH RECEPTOR GENE IN HEREDITARY GLUCOCORTICOID DEFICIENCY, MOLECULAR GENETICS AND METABOLISM, 64(4), 1998, pp. 256-265
TYPE-1 GAUCHER-DISEASE - PHENOTYPIC-EXPRESSION AND NATURAL-HISTORY INJAPANESE PATIENTS
Authors: IDA H RENNERT OM ITO T MAEKAWA K ETO Y
Citation: H. Ida et al., TYPE-1 GAUCHER-DISEASE - PHENOTYPIC-EXPRESSION AND NATURAL-HISTORY INJAPANESE PATIENTS, Blood cells, molecules, & diseases, 24(5), 1998, pp. 73-81
POLYMORPHISMS IN THE CODING EXONS OF THE HUMAN LUTEINIZING-HORMONE RECEPTOR GENE
Authors: WU SM JOSE M HALLERMEIER K RENNERT OM CHAN WY
Citation: Sm. Wu et al., POLYMORPHISMS IN THE CODING EXONS OF THE HUMAN LUTEINIZING-HORMONE RECEPTOR GENE, Human mutation, 11(4), 1998, pp. 333-334
TESTICULAR SEMINOMA IN A PATIENT WITH A CONSTITUTIVELY ACTIVATING MUTATION OF THE LUTEINIZING HORMONE CHORIONIC GONADOTROPIN RECEPTOR/
Authors: MARTIN MM WU SM MARTIN ALA RENNERT OM CHAN WY
Citation: Mm. Martin et al., TESTICULAR SEMINOMA IN A PATIENT WITH A CONSTITUTIVELY ACTIVATING MUTATION OF THE LUTEINIZING HORMONE CHORIONIC GONADOTROPIN RECEPTOR/, European journal of endocrinology, 139(1), 1998, pp. 101-106
DESCRIPTION OF A LARGE KINDRED WITH AUTOSOMAL-DOMINANT INHERITANCE OFBRANCHIAL ARCH ANOMALIES, HEARING-LOSS, AND EAR PITS, AND EXCLUSION OF THE BRANCHIOOTORENAL (BOR) SYNDROME GENE LOCUS (CHROMOSOME 8Q13.3)
Authors: STRATAKIS CA LIN JP RENNERT OM
Citation: Ca. Stratakis et al., DESCRIPTION OF A LARGE KINDRED WITH AUTOSOMAL-DOMINANT INHERITANCE OFBRANCHIAL ARCH ANOMALIES, HEARING-LOSS, AND EAR PITS, AND EXCLUSION OF THE BRANCHIOOTORENAL (BOR) SYNDROME GENE LOCUS (CHROMOSOME 8Q13.3), American journal of medical genetics, 79(3), 1998, pp. 209-214
SEGREGATION OF ALLGROVE (TRIPLE-A) SYNDROME IN PUERTO-RICAN KINDREDS WITH CHROMOSOME-12 (12Q13) POLYMORPHIC MARKERS
Authors: STRATAKIS CA LIN JP PRAS E RENNERT OM BOURDONY CJ CHAN WY
Citation: Ca. Stratakis et al., SEGREGATION OF ALLGROVE (TRIPLE-A) SYNDROME IN PUERTO-RICAN KINDREDS WITH CHROMOSOME-12 (12Q13) POLYMORPHIC MARKERS, Proceedings of the Association of American Physicians, 109(5), 1997, pp. 478-482
MUTATION PREVALENCE AMONG 47 UNRELATED JAPANESE PATIENTS WITH GAUCHER-DISEASE - IDENTIFICATION OF 4 NOVEL MUTATIONS
Authors: IDA H RENNERT OM KAWAME H MAEKAWA K ETO Y
Citation: H. Ida et al., MUTATION PREVALENCE AMONG 47 UNRELATED JAPANESE PATIENTS WITH GAUCHER-DISEASE - IDENTIFICATION OF 4 NOVEL MUTATIONS, Journal of inherited metabolic disease, 20(1), 1997, pp. 67-73
MOLECULAR-GENETICS OF SYNDROMES OF ADRENOCORTICOTROPIN (ACTH) RESISTANCE - NOVEL MUTATION OF THE ACTH RECEPTOR GENE IN HEREDITARY GLUCOCORTICOID RESISTANCE PATIENT AND REFINEMENT OF THE ALLGROVE-SYNDROME LOCUS
Authors: WU SM STRATAKIS CA BOURDONY CJ RENNERT OM CHEN WY
Citation: Sm. Wu et al., MOLECULAR-GENETICS OF SYNDROMES OF ADRENOCORTICOTROPIN (ACTH) RESISTANCE - NOVEL MUTATION OF THE ACTH RECEPTOR GENE IN HEREDITARY GLUCOCORTICOID RESISTANCE PATIENT AND REFINEMENT OF THE ALLGROVE-SYNDROME LOCUS, American journal of human genetics, 61(4), 1997, pp. 2058-2058
IDENTIFICATION OF 3 NOVEL MUTATIONS IN THE ACID SPHINGOMYELINASE GENEOF JAPANESE PATIENTS WITH NIEMANN-PICK DISEASE TYPE-A AND TYPE-B
Authors: IDA H RENNERT OM MAEKAWA K ETO Y
Citation: H. Ida et al., IDENTIFICATION OF 3 NOVEL MUTATIONS IN THE ACID SPHINGOMYELINASE GENEOF JAPANESE PATIENTS WITH NIEMANN-PICK DISEASE TYPE-A AND TYPE-B, Human mutation, 7(1), 1996, pp. 65-67
KIDNEY ABNORMALITIES IN HAJDU-CHENEY-SYNDROME
Authors: BARAKAT AJ SABA C RENNERT OM
Citation: Aj. Barakat et al., KIDNEY ABNORMALITIES IN HAJDU-CHENEY-SYNDROME, Pediatric nephrology, 10(6), 1996, pp. 712-715
CLINICAL AND GENETIC-STUDIES OF 5 FATAL CASES OF JAPANESE GAUCHER-DISEASE TYPE-1
Authors: IDA H RENNERT OM ITO T MAEKAWA K ETO Y
Citation: H. Ida et al., CLINICAL AND GENETIC-STUDIES OF 5 FATAL CASES OF JAPANESE GAUCHER-DISEASE TYPE-1, Acta Paediatrica Japonica Overseas Edition, 38(3), 1996, pp. 233-236
MUTATION SCREENING OF 17 JAPANESE PATIENTS WITH NEUROPATHIC GAUCHER DISEASE
Authors: IDA H RENNERT OM KAWAME H ITO T MAEKAWA K ETO Y
Citation: H. Ida et al., MUTATION SCREENING OF 17 JAPANESE PATIENTS WITH NEUROPATHIC GAUCHER DISEASE, Human genetics, 98(2), 1996, pp. 167-171
MANAGED CARE AND THE HIPPOCRATIC OATH
Authors: RENNERT OM
Citation: Om. Rennert, MANAGED CARE AND THE HIPPOCRATIC OATH, Pediatric annals, 25(12), 1996, pp. 657-658
CLASSICS IN ENDOCRINOLOGY
Authors: RENNERT OM
Citation: Om. Rennert, CLASSICS IN ENDOCRINOLOGY, The Endocrinologist, 5(5), 1995, pp. 329-329
CHARACTERISTICS OF GENE-MUTATIONS AMONG 32 UNRELATED JAPANESE GAUCHER-DISEASE PATIENTS - ABSENCE OF THE COMMON JEWISH 84GG AND 1226G MUTATIONS
Authors: IDA H IWASAWA K KAWAME H RENNERT OM MAEKAWA K ETO Y
Citation: H. Ida et al., CHARACTERISTICS OF GENE-MUTATIONS AMONG 32 UNRELATED JAPANESE GAUCHER-DISEASE PATIENTS - ABSENCE OF THE COMMON JEWISH 84GG AND 1226G MUTATIONS, Human genetics, 95(6), 1995, pp. 717-720
DO CLOCKS RUN CLOCKWISE
Authors: RENNERT OM
Citation: Om. Rennert, DO CLOCKS RUN CLOCKWISE, Pediatric annals, 24(11), 1995, pp. 564
RAPID-DETERMINATION OF CHROMOSOME X MONOSOMY AND OR MOSAICISM IN BUCCAL SMEARS OF PATIENTS WITH TURNER SYNDROME BY FLUORESCENT IN-SITU HYBRIDIZATION (FISH)
Authors: STRATAKIS CA GIRALDEZ RA HARRIS CP GERNICA A FEUILLAN P RENNERT OM CHROUSOS GP
Citation: Ca. Stratakis et al., RAPID-DETERMINATION OF CHROMOSOME X MONOSOMY AND OR MOSAICISM IN BUCCAL SMEARS OF PATIENTS WITH TURNER SYNDROME BY FLUORESCENT IN-SITU HYBRIDIZATION (FISH), Pediatric research, 37(4), 1995, pp. 153-153
TURNER SYNDROME - MOLECULAR AND CYTOGENETICS, DYSMORPHOLOGY, ENDOCRINE, AND OTHER CLINICAL MANIFESTATIONS AND THEIR MANAGEMENT
Authors: STRATAKIS CA RENNERT OM
Citation: Ca. Stratakis et Om. Rennert, TURNER SYNDROME - MOLECULAR AND CYTOGENETICS, DYSMORPHOLOGY, ENDOCRINE, AND OTHER CLINICAL MANIFESTATIONS AND THEIR MANAGEMENT, The Endocrinologist, 4(6), 1994, pp. 442-453
PATHOLOGICAL AND BIOCHEMICAL-STUDIES OF FETAL KRABBE DISEASE
Authors: IDA H RENNERT OM WATABE K ETO Y MAEKAWA K
Citation: H. Ida et al., PATHOLOGICAL AND BIOCHEMICAL-STUDIES OF FETAL KRABBE DISEASE, Brain & development, 16(6), 1994, pp. 480-484
A VARIANT OF THE CEREBRO-OCULO-FACIO-SKELETAL SYNDROME WITH CONGENITAL ECTROPION AND A CASE OF LAMELLAR ICHTHYOSIS IN THE SAME FAMILY
Authors: STRATAKIS CA RUNKLE B RENNERT OM
Citation: Ca. Stratakis et al., A VARIANT OF THE CEREBRO-OCULO-FACIO-SKELETAL SYNDROME WITH CONGENITAL ECTROPION AND A CASE OF LAMELLAR ICHTHYOSIS IN THE SAME FAMILY, Clinical genetics, 45(3), 1994, pp. 162-163
CLONING OF A HUMAN ACID SPHINGOMYELINASE CDNA WITH A NEW MUTATION THAT RENDERS THE ENZYME INACTIVE
Authors: IDA H RENNERT OM ETO Y CHAN WY
Citation: H. Ida et al., CLONING OF A HUMAN ACID SPHINGOMYELINASE CDNA WITH A NEW MUTATION THAT RENDERS THE ENZYME INACTIVE, Journal of Biochemistry, 114(1), 1993, pp. 15-20
Risultati: 1-21 |