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Results: 1-13 |
Results: 13
DEL(10)(Q22.3Q24.1) ASSOCIATED WITH JUVENILE POLYPOSIS
Authors: JACOBY RF SCHLACK S SEKHON G LAXOVA R
Citation: Rf. Jacoby et al., DEL(10)(Q22.3Q24.1) ASSOCIATED WITH JUVENILE POLYPOSIS, American journal of medical genetics, 70(4), 1997, pp. 361-364
KNIEST DYSPLASIA - RADIOLOGIC, HISTOPATHOLOGICAL, AND SCANNING ELECTRON-MICROSCOPIC FINDINGS
Authors: GILBERTBARNES E LANGER LO OPITZ JM LAXOVA R SOTELOARILA C
Citation: E. Gilbertbarnes et al., KNIEST DYSPLASIA - RADIOLOGIC, HISTOPATHOLOGICAL, AND SCANNING ELECTRON-MICROSCOPIC FINDINGS, American journal of medical genetics, 63(1), 1996, pp. 34-45
IDENTIFICATION OF A JUVENILE POLYPOSIS TUMOR-SUPPRESSOR GENE LOCUS (JP1) AND DEMONSTRATION OF ITS DELETION IN SUB-EPITHELIAL CELLS
Authors: JACOBY RF SCHLACK S COLE CE MARSHALL DJ KUHLMAN G SEKHON G LAXOVA R SKARBEK M HARRIS C MEISNER LF
Citation: Rf. Jacoby et al., IDENTIFICATION OF A JUVENILE POLYPOSIS TUMOR-SUPPRESSOR GENE LOCUS (JP1) AND DEMONSTRATION OF ITS DELETION IN SUB-EPITHELIAL CELLS, Gastroenterology, 110(4), 1996, pp. 535-535
OPITZ-SYNDROME IS GENETICALLY HETEROGENEOUS, WITH ONE LOCUS ON XP22, AND A 2ND LOCUS ON 22Q11.2
Authors: ROBIN NH FELDMAN GJ ARONSON AL MITCHELL HF WEKSBERG R LEONARD CO BURTON BK JOSEPHSON KD LAXOVA R ALECK KA ALLANSON JE GUIONALMEIDA ML MARTIN RA LEICHTMAN LG PRICE RA OPITZ JM MUENKE M
Citation: Nh. Robin et al., OPITZ-SYNDROME IS GENETICALLY HETEROGENEOUS, WITH ONE LOCUS ON XP22, AND A 2ND LOCUS ON 22Q11.2, Nature genetics, 11(4), 1995, pp. 459-461
FRAGILE-X SCREENING - WHAT IS THE REAL ISSUE
Authors: LAXOVA R
Citation: R. Laxova, FRAGILE-X SCREENING - WHAT IS THE REAL ISSUE, American journal of medical genetics, 57(3), 1995, pp. 508-509
DUBOWITZ SYNDROME - LONG-TERM FOLLOW-UP OF AN ORIGINAL PATIENT
Authors: HANSEN KE KIRKPATRICK SJ LAXOVA R
Citation: Ke. Hansen et al., DUBOWITZ SYNDROME - LONG-TERM FOLLOW-UP OF AN ORIGINAL PATIENT, American journal of medical genetics, 55(2), 1995, pp. 161-164
MANAGEMENT OF FETAL HYDRONEPHROSIS
Authors: BIESECKER LG LAXOVA R
Citation: Lg. Biesecker et R. Laxova, MANAGEMENT OF FETAL HYDRONEPHROSIS, Mayo Clinic proceedings, 70(6), 1995, pp. 603-603
PRENATAL-DIAGNOSIS OF X-LINKED HYDROCEPHALUS
Authors: JOUET M GARRETT C LAXOVA R KENWRICK S
Citation: M. Jouet et al., PRENATAL-DIAGNOSIS OF X-LINKED HYDROCEPHALUS, Journal of Medical Genetics, 32(2), 1995, pp. 144-144
SMALLEST CYTOGENETICALLY RECOGNIZED 10P DELETION
Authors: BOECKERS C SEKHON GS LAXOVA R
Citation: C. Boeckers et al., SMALLEST CYTOGENETICALLY RECOGNIZED 10P DELETION, American journal of human genetics, 57(4), 1995, pp. 603-603
DE-NOVO TRANSLOCATION INVOLVING CHROMOSOME-1 AND CHROMOSOME-4 RESULTING IN PARTIAL DUPLICATION OF 4Q AND PARTIAL DELETION OF 1P
Authors: LEGARE JM SEKHON GS LAXOVA R
Citation: Jm. Legare et al., DE-NOVO TRANSLOCATION INVOLVING CHROMOSOME-1 AND CHROMOSOME-4 RESULTING IN PARTIAL DUPLICATION OF 4Q AND PARTIAL DELETION OF 1P, American journal of medical genetics, 53(3), 1994, pp. 216-221
MUTATIONS OF THE P-GENE IN OCULOCUTANEOUS ALBINISM, OCULAR ALBINISM, AND PRADER-WILLI-SYNDROME PLUS ALBINISM
Authors: LEE ST NICHOLLS RD BUNDEY S LAXOVA R MUSARELLA M SPRITZ RA
Citation: St. Lee et al., MUTATIONS OF THE P-GENE IN OCULOCUTANEOUS ALBINISM, OCULAR ALBINISM, AND PRADER-WILLI-SYNDROME PLUS ALBINISM, The New England journal of medicine, 330(8), 1994, pp. 529-534
EVALUATION OF THE EFFECTIVENESS OF A TERATOGEN INFORMATION-SERVICE - A SURVEY OF PATIENT AND PROFESSIONAL SATISFACTION
Authors: LUDOWESE CJ MARINI T LAXOVA R PAULI RM
Citation: Cj. Ludowese et al., EVALUATION OF THE EFFECTIVENESS OF A TERATOGEN INFORMATION-SERVICE - A SURVEY OF PATIENT AND PROFESSIONAL SATISFACTION, Teratology, 48(3), 1993, pp. 233-245
MINIMUM GUIDELINES FOR THE DELIVERY OF CLINICAL GENETICS SERVICES
Authors: WEAVER DD BAKER D THEOBALD M COHEN F KING RA KRUEGER S LAXOVA R LUBINSKY MS
Citation: Dd. Weaver et al., MINIMUM GUIDELINES FOR THE DELIVERY OF CLINICAL GENETICS SERVICES, American journal of human genetics, 53(1), 1993, pp. 287-289
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