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Results: 1-9 |
Results: 9
MUTATIONS IN TRANSCRIPTIONAL REGULATOR ATRX ESTABLISH THE FUNCTIONAL-SIGNIFICANCE OF A PHD-LIKE DOMAIN
Authors: GIBBONS RJ BACHOO S PICKETTS DJ AFTIMOS S ASENBAUER B BERGOFFEN J BERRY SA DAHL N FRYER A KEPPLER K KUROSAWA K LEVIN ML MASUNO M NERI G PIERPONT ME SLANEY SF HIGGS DR
Citation: Rj. Gibbons et al., MUTATIONS IN TRANSCRIPTIONAL REGULATOR ATRX ESTABLISH THE FUNCTIONAL-SIGNIFICANCE OF A PHD-LIKE DOMAIN, Nature genetics, 17(2), 1997, pp. 146-148
HUMAN MUSCLE ACETYLCHOLINE-RECEPTOR ALPHA-SUBUNIT GENE (CHRNA1) ASSOCIATION WITH AUTOIMMUNE MYASTHENIA-GRAVIS IN BLACK, MIXED-ANCESTRY AND CAUCASIAN SUBJECTS
Authors: HECKMANN JM MORRISON KE EMERYKSZAJEWSKA B STRUGALSKA H BERGOFFEN J WILLCOX N NEWSOMDAVIS J
Citation: Jm. Heckmann et al., HUMAN MUSCLE ACETYLCHOLINE-RECEPTOR ALPHA-SUBUNIT GENE (CHRNA1) ASSOCIATION WITH AUTOIMMUNE MYASTHENIA-GRAVIS IN BLACK, MIXED-ANCESTRY AND CAUCASIAN SUBJECTS, Journal of autoimmunity, 9(2), 1996, pp. 175-180
FAMILIAL AUTOIMMUNE MYASTHENIA-GRAVIS
Authors: BERGOFFEN J ZMIJEWSKI CM FISCHBECK KH
Citation: J. Bergoffen et al., FAMILIAL AUTOIMMUNE MYASTHENIA-GRAVIS, Neurology, 44(3), 1994, pp. 551-554
PATERNAL TRANSMISSION OF CONGENITAL MYOTONIC-DYSTROPHY
Authors: BERGOFFEN J KANT J SLADKY J MCDONALDMCGINN D ZACKAI EH FISCHBECK KH
Citation: J. Bergoffen et al., PATERNAL TRANSMISSION OF CONGENITAL MYOTONIC-DYSTROPHY, Journal of Medical Genetics, 31(7), 1994, pp. 518-520
X-LINKED CHARCOT-MARIE-TOOTH DISEASE (CMTX1) - A STUDY OF 15 FAMILIESWITH 12 HIGHLY INFORMATIVE POLYMORPHISMS
Authors: COCHRANE S BERGOFFEN J FAIRWEATHER ND MULLER E MOSTACCIUOLO ML MONACO AP FISCHBECK KH HAITES NE
Citation: S. Cochrane et al., X-LINKED CHARCOT-MARIE-TOOTH DISEASE (CMTX1) - A STUDY OF 15 FAMILIESWITH 12 HIGHLY INFORMATIVE POLYMORPHISMS, Journal of Medical Genetics, 31(3), 1994, pp. 193-196
MARKED ELEVATION OF URINARY 3-HYDROXYDECANEDIOIC ACID IN A MALNOURISHED INFANT WITH GLYCOGEN-STORAGE-DISEASE, MIMICKING LONG-CHAIN L-3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: BERGOFFEN J KAPLAN P HALE DE BENNETT MJ BERRY GT
Citation: J. Bergoffen et al., MARKED ELEVATION OF URINARY 3-HYDROXYDECANEDIOIC ACID IN A MALNOURISHED INFANT WITH GLYCOGEN-STORAGE-DISEASE, MIMICKING LONG-CHAIN L-3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 16(5), 1993, pp. 851-856
CONNEXIN MUTATIONS IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE
Authors: BERGOFFEN J SCHERER SS WANG S SCOTT MO BONE LJ PAUL DL CHEN K LENSCH MW CHANCE PF FISCHBECK KH
Citation: J. Bergoffen et al., CONNEXIN MUTATIONS IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE, Science, 262(5142), 1993, pp. 2039-2042
LOCALIZATION OF X-LINKED CHARCOT-MARIE-TOOTH DISEASE TO XQ13.1
Authors: BERGOFFEN J CHEN K NIEUWENHUIJSEN BW COCHRANE S FAIRWEATHER N MONACO A HAITES N FISCHBECK KH
Citation: J. Bergoffen et al., LOCALIZATION OF X-LINKED CHARCOT-MARIE-TOOTH DISEASE TO XQ13.1, American journal of human genetics, 53(3), 1993, pp. 977-977
PATERNAL TRANSMISSION OF CONGENITAL MYOTONIC-DYSTROPHY
Authors: FISCHBECK KH BERGOFFEN J KANT J SLADKY J MCDONALDMCGINN D ZACKAI EH
Citation: Kh. Fischbeck et al., PATERNAL TRANSMISSION OF CONGENITAL MYOTONIC-DYSTROPHY, American journal of human genetics, 53(3), 1993, pp. 1157-1157
Risultati: 1-9 |