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Results:
1-17
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Results: 17
Authors:
SCHIMMENTI LA
CUNLIFFE HE
MCNOE LA
WARD TA
FRENCH MC
SHIM HH
ZHANG YH
PROESMANS W
LEYS A
BYERLY KA
BRADDOCK SR
MASUNO M
IMAIZUMI K
DEVRIENDT K
ECCLES MR
Citation: La. Schimmenti et al., FURTHER DELINEATION OF RENAL-COLOBOMA SYNDROME IN PATIENTS WITH EXTREME VARIABILITY OF PHENOTYPE AND IDENTICAL PAX2 MUTATIONS, American journal of human genetics, 60(4), 1997, pp. 869-878
ERYTHROPOIETIN RECEPTOR (EPOR) FUSION PARTNER IN TF-1 CELLS IS A NOVEL CDNA EXPRESSED IN FETAL LIVER
Authors:
SCHIMMENTI LA
WINKELMANN JC
Citation: La. Schimmenti et Jc. Winkelmann, ERYTHROPOIETIN RECEPTOR (EPOR) FUSION PARTNER IN TF-1 CELLS IS A NOVEL CDNA EXPRESSED IN FETAL LIVER, Journal of investigative medicine, 44(1), 1996, pp. 108-108
Authors:
SANYANUSIN P
SCHIMMENTI LA
MCNOE LA
WARD TA
PIERPONT MEM
SULLIVAN MJ
DOBYNS WB
ECCLES MR
Citation: P. Sanyanusin et al., MUTATION OF THE GENE IN A FAMILY WITH OPTIC-NERVE COLOBOMAS, RENAL ANOMOLIES AND VESICOURETERAL REFLUX (VOL 9, PG 358, 1995), Nature genetics, 13(1), 1996, pp. 129-129
Authors:
SANYANUSIN P
SCHIMMENTI LA
MCNOE LA
WARD TA
PIERPONT MEM
SULLIVAN MJ
DOBYNS WB
ECCLES MR
Citation: P. Sanyanusin et al., MUTATION OF THE PAX2 GENE IN A FAMILY WITH OPTIC-NERVE COLOBOMAS, RENAL ANOMALIES AND VESICOURETERAL REFLUX, Nature genetics, 9(4), 1995, pp. 358-364
Authors:
ECCLES MR
SANYANUSIN P
MCNOE LA
WEAVER RG
SCHIMMENTI LA
Citation: Mr. Eccles et al., COLOBOMA-RENAL SYNDROME IS ASSOCIATED WITH MUTATION OF PAX2, Journal of the American Society of Nephrology, 6(3), 1995, pp. 719-719
Authors:
SCHIMMENTI LA
BLECHERT G
HARRIS KW
WINKELMANN JC
Citation: La. Schimmenti et al., LOCALIZATION OF AN ESSENTIAL LIGAND-BINDING DETERMINANT OF THE HUMAN ERYTHROPOIETIN RECEPTOR TO A DOMAIN N-TERMINAL TO THE WSXWS MOTIF - IMPLICATIONS FOR SOLUBLE RECEPTOR FUNCTION, Experimental hematology, 23(13), 1995, pp. 1341-1346
Authors:
SCHIMMENTI LA
PIERPONT ME
CARPENTER BLM
KASHTAN CE
JOHNSON MR
DOBYNS WB
Citation: La. Schimmenti et al., AUTOSOMAL-DOMINANT OPTIC-NERVE COLOBOMAS, VESICOURETERAL REFLUX, AND RENAL ANOMALIES, American journal of medical genetics, 59(2), 1995, pp. 204-208
Authors:
SCHIMMENTI LA
HIGGINS RR
MENDELSOHN NJ
CASEY TM
STEINBERGER J
MAMMEL MC
WIESNER GL
Citation: La. Schimmenti et al., MONOSOMY 9P24-]PTER AND TRISOMY 5Q31-]QTER - CASE-REPORT AND REVIEW OF 2 CASES, American journal of medical genetics, 57(1), 1995, pp. 52-56
Authors:
ECCLES MR
SANYANUSIN P
MCNOE LA
WEAVER RG
SCHIMMENTI LA
Citation: Mr. Eccles et al., RENAL-COLOBOMA SYNDROME IS ASSOCIATED WITH MUTATION OF PAX2, American journal of human genetics, 57(4), 1995, pp. 60-60
Authors:
SCHOWALTER DB
SCHIMMENTI LA
KALINA RE
PAGON RA
Citation: Db. Schowalter et al., FACIO-OCULAR-ACOUSTICO-RENAL (FOAR) SYNDROME - A CASE-REPORT AND CONSIDERATION OF A PAX2, CAUSATIVE MUTATION, American journal of human genetics, 57(4), 1995, pp. 564-564
Authors:
SILVESTRI G
SANTORELLI FM
SHANSKE S
WHITLEY CB
SCHIMMENTI LA
SMITH SA
DIMAURO S
Citation: G. Silvestri et al., A NEW MTDNA MUTATION IN THE TRNA(LEU(UUR)) GENE ASSOCIATED WITH MATERNALLY INHERITED CARDIOMYOPATHY, Human mutation, 3(1), 1994, pp. 37-43
Authors:
SCHIMMENTI LA
BERRY SA
TUCHMAN M
HIRSCH B
Citation: La. Schimmenti et al., INFANT WITH MULTIPLE CONGENITAL-ANOMALIES AND DELETION (9)(Q34.3), American journal of medical genetics, 51(2), 1994, pp. 140-142
Authors:
SCHIMMENTI LA
BLECHERT GL
HARRIS KW
WINKELMANN JC
Citation: La. Schimmenti et al., ERYTHROPOIETIN (EPO) BINDING TO THE ERYTHROPOIETIN RECEPTOR (EPOR) DEPENDS UPON THE DOMAIN ENCODED BY THE 5' REGION OF EXON-5 OF THE EPOR GENE, Pediatric research, 35(4), 1994, pp. 10000077-10000077
Authors:
SCHIMMENTI LA
BLECHERT G
HARRIS KW
WINKELMANN JC
Citation: La. Schimmenti et al., LOCALIZATION OF A LIGAND-BINDING DETERMINANT OF THE ERYTHROPOIETIN RECEPTOR TO A DOMAIN NEAR THE WSXWS MOTIF, Blood, 84(10), 1994, pp. 10000426-10000426
Authors:
SILVESTRI G
SHANSKE S
WHITLEY CB
SCHIMMENTI LA
SMITH SA
DIMAURO S
Citation: G. Silvestri et al., A NEW MTDNA MUTATION IN THE TRANSFER RNA(LEU(UUR) GENE ASSOCIATED WITH CARDIOMYOPATHY AND RAGGED-RED FIBERS, Neurology, 43(4), 1993, pp. 402-402
Authors:
SCHIMMENTI LA
BLECHERT GL
HARRIS KW
WINKELMANN JC
Citation: La. Schimmenti et al., THE PUTATIVE SOLUBLE FORM OF THE ERYTHROPOIETIN RECEPTOR (EPOR) DOES NOT BIND ERYTHROPOIETIN (EPO), Blood, 82(10), 1993, pp. 10000228-10000228
Authors:
SCHIMMENTI LA
CICH JA
GORLIN RJ
BERRY SA
Citation: La. Schimmenti et al., AUTOSOMAL-DOMINANT INHERITANCE OF WILMS-TUMOR AND BRANCHIAL CLEFT ANOMALIES - A NEW SYNDROME, American journal of human genetics, 53(3), 1993, pp. 503-503
Risultati:
1-17
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