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Results: 1-25/30
Authors:
MCKUSICK VA
Citation: Va. Mckusick, OSKI,FRANK,A. - 1932-1996, Proceedings of the Association of American Physicians, 110(4), 1998, pp. 375-376
Authors:
MCKUSICK VA
Citation: Va. Mckusick, ON THE NAMING OF CLINICAL DISORDERS, WITH PARTICULAR REFERENCE TO EPONYMS, Medicine, 77(1), 1998, pp. 1-2
Authors:
SMITH FJD
STEIJLEN PM
MCKENNA K
HEALY E
REES JL
FISHER MP
BONIFAS JM
EPSTEIN EH
MCKUSICK VA
TAN E
UITTO J
MCLEAN WHI
Citation: Fjd. Smith et al., CLONING OF MULTIPLE K16 GENES AND GENOTYPE-PHENOTYPE CORRELATION IN PACHYONYCHIA-CONGENITA TYPE-I AND FOCAL PPK, Journal of investigative dermatology, 110(4), 1998, pp. 502-502
Authors:
MCKUSICK VA
Citation: Va. Mckusick, MOLECULAR-GENETICS IN CLINICAL-PRACTICE - THE SERIES BEGINS, Hospital practice, 32(1), 1997, pp. 11-12
Authors:
MCKUSICK VA
Citation: Va. Mckusick, OBSERVATIONS OVER 50 YEARS CONCERNING INTESTINAL POLYPOSIS, MARFAN-SYNDROME AND ACHONDROPLASIA, Nature medicine, 3(10), 1997, pp. 1065-1068
Authors:
GOEBEL HH
SEDDIGH S
HOPF HC
UEMICHI T
BENSON MD
MCKUSICK VA
Citation: Hh. Goebel et al., A EUROPEAN FAMILY WITH HISTIDINE-58 TRANSTHYRETIN MUTATION IN FAMILIAL AMYLOID POLYNEUROPATHY, Neuromuscular disorders, 7(4), 1997, pp. 229-230
Authors:
ARCH EM
GOODMAN BK
VANWESEP RA
LIAW D
CLARKE K
PARSONS R
MCKUSICK VA
GERAGHTY MT
Citation: Em. Arch et al., DELETION OF PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE, American journal of medical genetics, 71(4), 1997, pp. 489-493
Authors:
MCKUSICK VA
Citation: Va. Mckusick, MAPPING THE HUMAN GENOME - RETROSPECTIVE, PERSPECTIVE AND PROSPECTIVE, Proceedings of the American Philosophical Society, 141(4), 1997, pp. 417-424
Authors:
HOWARD TD
GUTTMACHER AE
MCKINNON W
SHARMA M
MCKUSICK VA
JABS EW
Citation: Td. Howard et al., AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY, NAIL DYSTROPHY, AND DENTAL ABNORMALITIES MAP TO CHROMOSOME 4P16, IN THE REGION CONTAINING THE ELLIS-VAN-CREVELD-SYNDROME LOCUS, American journal of human genetics, 61(6), 1997, pp. 1405-1412
Authors:
MCKINNON W
GUTTMACHER AE
HOWARD TD
MCKUSICK VA
JABS EW
Citation: W. Mckinnon et al., AUTOSOMAL-DOMINANT POSTAXIAL POLYDACTYLY, NAIL DYSTROPHY, AND DENTAL ABNORMALITIES MAP TO CHROMOSOME 4P16 IN THE REGION CONTAINING THE ELLIS-VAN-CREVELD-SYNDROME LOCUS, American journal of human genetics, 61(4), 1997, pp. 253-253
Authors:
ARCH EM
GOODMAN BK
LIAW D
PARSONS R
VANWESEP RA
CLARKE K
MCKUSICK VA
GERAGHTY MT
Citation: Em. Arch et al., DELETION OF 10Q23.2-Q24.1 INCLUDING PTEN IN A PATIENT WITH BANNAYAN-RILEY-RUVALCABA-SYNDROME SUGGESTS ALLELISM WITH COWDEN-DISEASE, American journal of human genetics, 61(4), 1997, pp. 663-663
Authors:
SMITH FJD
FISHER MP
HEALY E
REES JL
MCKUSICK VA
BONIFAS JM
EPSTEIN EH
UITTO J
MCLEAN WHI
Citation: Fjd. Smith et al., MISSENSE OR IN-FRAME DELETION MUTATIONS IN HUMAN KERATIN-16 CAN CAUSEVARIABLE PHENOTYPES OF PACHYONYCHIA AND OR PALMOPLANTAR KERATODERMA/, American journal of human genetics, 61(4), 1997, pp. 2032-2032
Authors:
BEUTLER E
MCKUSICK VA
MOTULSKY AG
SCRIVER CR
HUTCHINSON F
Citation: E. Beutler et al., MUTATION NOMENCLATURE - NICKNAMES, SYSTEMATIC NAMES, AND UNIQUE IDENTIFIERS, Human mutation, 8(3), 1996, pp. 203-206
Authors:
GOTT VL
LASCHINGER JC
CAMERON DE
DIETZ HC
GREENE PS
GILLINOV AM
PYERITZ RE
ALEJO DE
FLEISCHER KJ
ANHALT GJ
STONE CD
MCKUSICK VA
Citation: Vl. Gott et al., THE MARFAN-SYNDROME AND THE CARDIOVASCULAR SURGEON, European journal of cardio-thoracic surgery, 10(3), 1996, pp. 149-158
Authors:
MCKUSICK VA
AMBERGER JS
FRANCOMANO CA
Citation: Va. Mckusick et al., PROGRESS IN MEDICAL GENETICS - MAP-BASED GENE DISCOVERY AND THE MOLECULAR PATHOLOGY OF SKELETAL DYSPLASIAS, American journal of medical genetics, 63(1), 1996, pp. 98-105
Authors:
MCKUSICK VA
Citation: Va. Mckusick, REVIEWS IN MOLECULAR MEDICINE, Medicine, 74(6), 1995, pp. 301-304
Authors:
GOTT VL
GILLINOV AM
PYERITZ RE
CAMERON DE
REITZ BA
GREENE PS
STONE CD
FERRIS RL
ALEJO DE
MCKUSICK VA
Citation: Vl. Gott et al., AORTIC ROOT REPLACEMENT - RISK FACTOR-ANALYSIS OF A 17-YEAR EXPERIENCE WITH 270 PATIENTS, Journal of thoracic and cardiovascular surgery, 109(3), 1995, pp. 536-545
Authors:
COTTON RGH
MCKUSICK VA
Citation: Rgh. Cotton et Va. Mckusick, GENE-SPECIFIC MUTATION DATABASES, American journal of human genetics, 57(4), 1995, pp. 920-920
Authors:
ROMEO G
MCKUSICK VA
Citation: G. Romeo et Va. Mckusick, PHENOTYPIC DIVERSITY, ALLELIC SERIES AND MODIFIER GENES, Nature genetics, 7(4), 1994, pp. 451-453
Authors:
ANTONARAKIS SE
MCKUSICK VA
Citation: Se. Antonarakis et Va. Mckusick, DISCUSSION ON MUTATION NOMENCLATURE, Human mutation, 4(2), 1994, pp. 166-166
Authors:
TUGENDREICH S
BASSETT DE
MCKUSICK VA
BOGUSKI MS
HIETER P
Citation: S. Tugendreich et al., GENES CONSERVED IN YEAST AND HUMANS, Human molecular genetics, 3, 1994, pp. 1509-1517
Authors:
SULISALO T
FRANCOMANO CA
SISTONEN P
MAHER JF
MCKUSICK VA
DELACHAPELLE A
KAITILA I
Citation: T. Sulisalo et al., HIGH-RESOLUTION GENETIC-MAPPING OF THE CARTILAGE-HAIR HYPOPLASIA (CHH) GENE IN AMISH AND FINNISH FAMILIES, Genomics, 20(3), 1994, pp. 347-353
Authors:
MCKUSICK VA
Citation: Va. Mckusick, ALKAPTONURIA - TRACKED DOWN TO CHROMOSOME-3, Genomics, 19(1), 1994, pp. 3-4
Authors:
GOTT VL
CAMERON DE
PYERITZ RE
GILLINOV AM
GREENE PS
STONE CD
ALEJO DE
MCKUSICK VA
Citation: Vl. Gott et al., COMPOSITE GRAFT REPAIR OF MARFAN ANEURYSM OF THE ASCENDING AORTA - RESULTS IN 150 PATIENTS, Journal of cardiac surgery, 9(5), 1994, pp. 482-489
Authors:
LEBWOHL M
NELDNER K
POPE FM
DEPAEPE A
CHRISTIANO AM
BOYD CD
UITTO J
MCKUSICK VA
Citation: M. Lebwohl et al., CLASSIFICATION OF PSEUDOXANTHOMA ELASTICUM - REPORT OF A CONSENSUS CONFERENCE, Journal of the American Academy of Dermatology, 30(1), 1994, pp. 103-107