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Results: 1-7 |
Results: 7
COFFIN-LOWRY-SYNDROME - RSK2 GENE STRUCTURE AND MUTATION ANALYSIS
Authors: JACQUOT S MERIENNE K TRIVIER E SCHWARTZ C PANNETIER S HANAUER A
Citation: S. Jacquot et al., COFFIN-LOWRY-SYNDROME - RSK2 GENE STRUCTURE AND MUTATION ANALYSIS, European journal of human genetics, 6, 1998, pp. 3006-3006
RAPID IMMUNOBLOT AND KINASE ASSAY TESTS FOR A SYNDROMAL FORM OF X-LINKED MENTAL-RETARDATION - COFFIN-LOWRY-SYNDROME
Authors: MERIENNE K JACQUOT S TRIVIER E PANNETIER S ROSSI A SCOTT C SCHINZEL A CASTELLAN C KRESS W HANAUER A
Citation: K. Merienne et al., RAPID IMMUNOBLOT AND KINASE ASSAY TESTS FOR A SYNDROMAL FORM OF X-LINKED MENTAL-RETARDATION - COFFIN-LOWRY-SYNDROME, Journal of Medical Genetics, 35(11), 1998, pp. 890-894
DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP)
Authors: ROWE PSN OUDET CL FRANCIS F SINDING C PANNETIER S ECONS MJ STROM TM MEITINGER T GARABEDIAN M DAVID A MACHER MA QUESTIAUX E POPOWSKA E PRONICKA E READ AP MOKRZYCKI A GLORIEUX FH DREZNER MK HANAUER A LEHRACH H GOULDING JN ORIORDAN JLH
Citation: Psn. Rowe et al., DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP), Human molecular genetics, 6(4), 1997, pp. 539-549
THE COFFIN-LOWRY SYNDROME
Authors: HANAUER A TRIVIER E DECESARE D JACQUOT S PANNETIER S SASSONECORSI P MANDEL JL
Citation: A. Hanauer et al., THE COFFIN-LOWRY SYNDROME, MS. Medecine sciences, 13(1), 1997, pp. 107-108
A 2ND FAMILY WITH XLRH DISPLAYS THE MUTATION-S244L IN THE CLCN5 GENE
Authors: OUDET C MARTINCOIGNARD D PANNETIER S PRAUD E CHAMPION G HANAUER A
Citation: C. Oudet et al., A 2ND FAMILY WITH XLRH DISPLAYS THE MUTATION-S244L IN THE CLCN5 GENE, Human genetics, 99(6), 1997, pp. 781-784
MUTATIONS IN THE KINASE RSK-2 ASSOCIATED WITH COFFIN-LOWRY SYNDROME
Authors: TRIVIER E DECESARE D JACQUOT S PANNETIER S ZACKAI E YOUNG I MANDEL JL SASSONECORSI P HANAUER A
Citation: E. Trivier et al., MUTATIONS IN THE KINASE RSK-2 ASSOCIATED WITH COFFIN-LOWRY SYNDROME, Nature, 384(6609), 1996, pp. 567-570
A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: FRANCIS F HENNIG S KORN B REINHARDT R DEJONG P POUSTKA A LEHRACH H ROWE PSN GOULDING JN SUMMERFIELD T MOUNTFORD R READ AP POPOWSKA E PRONICKA E DAVIES KE ORIORDAN JLH ECONS MJ NESBITT T DREZNER MK OUDET C PANNETIER S HANAUER A STROM TM MEINDL A LORENZ B CAGNOLI M MOHNIKE KL MURKEN J MEITINGER T
Citation: F. Francis et al., A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS, Nature genetics, 11(2), 1995, pp. 130-136
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