AAAAAA

   
Results: 1-25 | 26-38 |
Results: 26-38/38
FULL-FIELD ELECTRORETINOGRAMS IN A 3 GENERATION FAMILY WITH DOMINANT CONE-ROD DYSTROPHY
Authors: PONJAVIC V ANDREASSON SO ERIKSEN H TRANEBJAERG L EHINGER B
Citation: V. Ponjavic et al., FULL-FIELD ELECTRORETINOGRAMS IN A 3 GENERATION FAMILY WITH DOMINANT CONE-ROD DYSTROPHY, Investigative ophthalmology & visual science, 37(3), 1996, pp. 1557-1557
GENES AND LANGUAGES IN EUROPE - AN ANALYSIS OF MITOCHONDRIAL LINEAGES
Authors: SAJANTILA A LAHERMO P ANTTINEN T LUKKA M SISTONEN P SAVONTAUS ML AULA P BECKMAN L TRANEBJAERG L GEDDEDAHL T ISSELTARVER L DIRIENZO A PAABO S
Citation: A. Sajantila et al., GENES AND LANGUAGES IN EUROPE - AN ANALYSIS OF MITOCHONDRIAL LINEAGES, PCR methods and applications, 5(1), 1995, pp. 42-52
FLUORESCENT DETECTION OF MICROSATELLITE POLYMORPHISMS - PROPERDIN DEFICIENCY LINKED TO PFC MICROSATELLITE
Authors: AGARDI D PIGG M SJOHOLM AG TRUEDSSON L SPATH PJ KUIJPER EJ TIJSSEN CC TRANEBJAERG L GUSTAVSON KH ULFENDAHL PJ WADELIUS C
Citation: D. Agardi et al., FLUORESCENT DETECTION OF MICROSATELLITE POLYMORPHISMS - PROPERDIN DEFICIENCY LINKED TO PFC MICROSATELLITE, Experimental and clinical immunogenetics, 12(2), 1995, pp. 111-114
A NEW X-LINKED RECESSIVE DEAFNESS SYNDROME WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY IS LINKED TO XQ22
Authors: TRANEBJAERG L SCHWARTZ C ERIKSEN H ANDREASSON S PONJAVIC V DAHL A STEVENSON RE MAY M ARENA F BARKER D ELVERLAND HH LUBS H
Citation: L. Tranebjaerg et al., A NEW X-LINKED RECESSIVE DEAFNESS SYNDROME WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY IS LINKED TO XQ22, Journal of Medical Genetics, 32(4), 1995, pp. 257-263
ALPHA-MANNOSIDOSIS - FUNCTIONAL CLONING OF THE ALPHA-MANNOSIDASE GENEAND IDENTIFICATION OF A MUTATION IN AFFECTED SIBLINGS
Authors: NILSSEN O BERG T RUBENTHIRAN U HANSEN GM RIISE HMF TRANEBJAERG L MALM D TOLLERSRUD OK
Citation: O. Nilssen et al., ALPHA-MANNOSIDOSIS - FUNCTIONAL CLONING OF THE ALPHA-MANNOSIDASE GENEAND IDENTIFICATION OF A MUTATION IN AFFECTED SIBLINGS, American journal of human genetics, 57(4), 1995, pp. 195-195
PRENATAL-DIAGNOSIS OF OSTEOGENESIS IMPERFECTA
Authors: BERGE LN MARTON V TRANEBJAERG L KEARNEY MS KISERUD T OIAN P
Citation: Ln. Berge et al., PRENATAL-DIAGNOSIS OF OSTEOGENESIS IMPERFECTA, Acta obstetricia et gynecologica Scandinavica, 74(4), 1995, pp. 321-323
394DELTT - A NORDIC CYSTIC-FIBROSIS MUTATION
Authors: SCHWARTZ M ANVRET M CLAUSTRES M EIKEN HG EIKLID K SCHAEDEL C STOLPE L TRANEBJAERG L
Citation: M. Schwartz et al., 394DELTT - A NORDIC CYSTIC-FIBROSIS MUTATION, Human genetics, 93(2), 1994, pp. 157-161
EARLY PRENATAL DIRECT GENE DIAGNOSIS OF CYSTIC-FIBROSIS IN A TWIN PREGNANCY AND SUBSEQUENT SELECTIVE TERMINATION
Authors: JORGENSEN FS BANG J TRANEBJAERG L BERGE LN EIKNES SH SCHWARTZ M
Citation: Fs. Jorgensen et al., EARLY PRENATAL DIRECT GENE DIAGNOSIS OF CYSTIC-FIBROSIS IN A TWIN PREGNANCY AND SUBSEQUENT SELECTIVE TERMINATION, Prenatal diagnosis, 14(2), 1994, pp. 149-152
PREVALENCE OF FRA(X) IN THE COUNTY OF FUNEN IN DENMARK IS LOWER THAN EXPECTED
Authors: TRANEBJAERG L HILLING S JESSEN J LIND D HANSEN MS
Citation: L. Tranebjaerg et al., PREVALENCE OF FRA(X) IN THE COUNTY OF FUNEN IN DENMARK IS LOWER THAN EXPECTED, American journal of medical genetics, 51(4), 1994, pp. 423-427
CLINICAL-DIAGNOSIS OF THE USHER SYNDROMES
Authors: SMITH RJH BERLIN CI HEJTMANCIK JF KEATS BJB KIMBERLING WJ LEWIS RA MOLLER CG PELIAS MZ TRANEBJAERG L
Citation: Rjh. Smith et al., CLINICAL-DIAGNOSIS OF THE USHER SYNDROMES, American journal of medical genetics, 50(1), 1994, pp. 32-38
ASPARTYLGLUCOSAMINURIA IN NORTHERN NORWAY - A MOLECULAR AND GENEALOGICAL STUDY
Authors: TOLLERSRUD OK NILSSEN O TRANEBJAERG L BORUD O
Citation: Ok. Tollersrud et al., ASPARTYLGLUCOSAMINURIA IN NORTHERN NORWAY - A MOLECULAR AND GENEALOGICAL STUDY, Journal of Medical Genetics, 31(5), 1994, pp. 360-363
THE GENE FOR SPONDYLOEPIPHYSEAL DYSPLASIA (SEDL) MAPS TO XP22 BETWEENDXS16 AND DXS92
Authors: HEUERTZ S NELEN M WILKIE AOM LEMERRER M DELRIEU O LARGETPIET L TRANEBJAERG L BICK D HAMEL B VANOOST BA MAROTEAUX P HORSCAYLA MC
Citation: S. Heuertz et al., THE GENE FOR SPONDYLOEPIPHYSEAL DYSPLASIA (SEDL) MAPS TO XP22 BETWEENDXS16 AND DXS92, Genomics, 18(1), 1993, pp. 100-104
FREQUENCY OF THE DELTA-F508-MUTATIONS AND EXON-11-MUTATIONS IN NORWEGIAN CYSTIC-FIBROSIS PATIENTS
Authors: EIKLID K TRANEBJAERG L EIKEN HG PEDERSEN JC MICHALSEN H FLUGE G SCHWARTZ M NILSEN BR BOLLE R SKYBERG D BOMAN H BERG K
Citation: K. Eiklid et al., FREQUENCY OF THE DELTA-F508-MUTATIONS AND EXON-11-MUTATIONS IN NORWEGIAN CYSTIC-FIBROSIS PATIENTS, Clinical genetics, 44(1), 1993, pp. 12-14
Risultati: 1-25 | 26-38 |