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Results: 1-11 |
Results: 11
SCARCITY OF MUTATIONS DETECTED IN FAMILIES WITH X-LINKED HYPOHIDROTICECTODERMAL DYSPLASIA - DIAGNOSTIC IMPLICATIONS
Authors: FERGUSON BM THOMAS NST MUNOZ F MORGAN D CLARKE A ZONANA J
Citation: Bm. Ferguson et al., SCARCITY OF MUTATIONS DETECTED IN FAMILIES WITH X-LINKED HYPOHIDROTICECTODERMAL DYSPLASIA - DIAGNOSTIC IMPLICATIONS, Journal of Medical Genetics, 35(2), 1998, pp. 112-115
MOLECULAR-GENETIC STUDIES IN FAMILIAL RETT-SYNDROME
Authors: THOMAS NST DAVIES K WEBB T WILLIAMS N PRICE W OWEN M PEREIRA J KERR A ANVRET M HANEFELD E CLARKE A
Citation: Nst. Thomas et al., MOLECULAR-GENETIC STUDIES IN FAMILIAL RETT-SYNDROME, European child & adolescent psychiatry, 6, 1997, pp. 94-94
ALAND ISLAND EYE DISEASE - CLINICAL AND ELECTROPHYSIOLOGICAL STUDIES OF A WELSH FAMILY
Authors: HAWKSWORTH NR HEADLAND S GOOD P THOMAS NST CLARKE A
Citation: Nr. Hawksworth et al., ALAND ISLAND EYE DISEASE - CLINICAL AND ELECTROPHYSIOLOGICAL STUDIES OF A WELSH FAMILY, British journal of ophthalmology, 79(5), 1995, pp. 424-430
REPORT ON THE 20TH ENMC SPONSORED INTERNATIONAL WORKSHOP - MYOTUBULARCENTRONUCLEAR MYOPATHY/
Authors: WALLGRENPETTERSSON C THOMAS NST
Citation: C. Wallgrenpettersson et Nst. Thomas, REPORT ON THE 20TH ENMC SPONSORED INTERNATIONAL WORKSHOP - MYOTUBULARCENTRONUCLEAR MYOPATHY/, Neuromuscular disorders, 4(1), 1994, pp. 71-74
MAPPING OF THE EDA CRITICAL REGION AND ISOLATION OF CANDIDATE CDNAS FROM WITHIN IT
Authors: ZONANA J CHELLY J MUNOZ F JONES M GAULT J THOMAS NST CLARKE A MONACO A
Citation: J. Zonana et al., MAPPING OF THE EDA CRITICAL REGION AND ISOLATION OF CANDIDATE CDNAS FROM WITHIN IT, Cytogenetics and cell genetics, 67(4), 1994, pp. 354-355
DETECTION OF DE-NOVO MUTATIONS AND ANALYSIS OF THEIR ORIGIN IN FAMILIES WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA
Authors: ZONANA J JONES M CLARKE A GAULT J MULLER B THOMAS NST
Citation: J. Zonana et al., DETECTION OF DE-NOVO MUTATIONS AND ANALYSIS OF THEIR ORIGIN IN FAMILIES WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA, Journal of Medical Genetics, 31(4), 1994, pp. 287-292
X-LINKED MYOTUBULAR MYOPATHY (MTM1) MAPS BETWEEN DXS304 AND DXS305, CLOSELY LINKED TO THE DXS455 VNTR AND A NEW, HIGHLY INFORMATIVE MICROSATELLITE MARKER (DXS1684)
Authors: DAHL N SAMSON F THOMAS NST HU LJ GONG W HERMAN G LAPORTE J KIOSCHIS P POUSTKA A MANDEL JL
Citation: N. Dahl et al., X-LINKED MYOTUBULAR MYOPATHY (MTM1) MAPS BETWEEN DXS304 AND DXS305, CLOSELY LINKED TO THE DXS455 VNTR AND A NEW, HIGHLY INFORMATIVE MICROSATELLITE MARKER (DXS1684), Journal of Medical Genetics, 31(12), 1994, pp. 922-924
CHARACTERIZATION OF MOLECULAR DNA REARRANGEMENTS WITHIN THE XQ12-Q13.1 REGION, IN 3 PATIENTS WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA)
Authors: THOMAS NST CHELLY J ZONANA J DAVIES KJP MORGAN S GAULT J RACK KA BUCKLE VJ BROCKDORFF N CLARKE A MONACO A
Citation: Nst. Thomas et al., CHARACTERIZATION OF MOLECULAR DNA REARRANGEMENTS WITHIN THE XQ12-Q13.1 REGION, IN 3 PATIENTS WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA), Human molecular genetics, 2(10), 1993, pp. 1679-1685
CHARACTERIZATION OF MOLECULAR DNA REARRANGEMENTS, WITHIN THE XQ12-]Q13.1 REGION, IN 4 PATIENTS WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA)
Authors: THOMAS NST CHELLY J ZONANA J DAVIES KJP CLARK A ROBERTS SH FIELDING D FRYER A GAULT J RACK K BUCKLE V MONACO AP
Citation: Nst. Thomas et al., CHARACTERIZATION OF MOLECULAR DNA REARRANGEMENTS, WITHIN THE XQ12-]Q13.1 REGION, IN 4 PATIENTS WITH X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA), Cytogenetics and cell genetics, 64(3-4), 1993, pp. 193-194
IDENTIFICATION OF BOTH DE-NOVO MOLECULAR DELETIONS AND AN APPARENT EXCESS OF MALE GERM-LINE MUTATIONS IN X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) - IMPLICATIONS FOR GENETIC-COUNSELING
Authors: ZONANA J JONES M CLARKE A THOMAS NST
Citation: J. Zonana et al., IDENTIFICATION OF BOTH DE-NOVO MOLECULAR DELETIONS AND AN APPARENT EXCESS OF MALE GERM-LINE MUTATIONS IN X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) - IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 53(3), 1993, pp. 1263-1263
X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) - ANALYSIS OF CYTOGENETIC REARRANGEMENTS IN 4 PATIENTS AND DEVELOPMENT OF A DETAILED PHYSICAL MAP WITHIN XQ12-Q13.1.
Authors: THOMAS NST CHELLY J ZONANA J DAVIES KJP CLARKE A ROBERTS SH FIELDING D FRYER A GAULT J RACK K BUCKLE V MONACO AP
Citation: Nst. Thomas et al., X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) - ANALYSIS OF CYTOGENETIC REARRANGEMENTS IN 4 PATIENTS AND DEVELOPMENT OF A DETAILED PHYSICAL MAP WITHIN XQ12-Q13.1., American journal of human genetics, 53(3), 1993, pp. 1282-1282
Risultati: 1-11 |