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Results: 1-7 |
Results: 7
UHX1 AND PCTK1 - PRECISE CHARACTERIZATION AND LOCALIZATION WITHIN A GENE-RICH REGION IN XP11.23 AND EVALUATION AS CANDIDATE GENES FOR RETINAL DISEASES MAPPED TO XP21.1-P11.2
Authors: BRANDAU O NYAKATURA G JEDELE KB PLATZER M ACHATZ H ROSS M MURKEN J ROSENTHAL A MEINDL A
Citation: O. Brandau et al., UHX1 AND PCTK1 - PRECISE CHARACTERIZATION AND LOCALIZATION WITHIN A GENE-RICH REGION IN XP11.23 AND EVALUATION AS CANDIDATE GENES FOR RETINAL DISEASES MAPPED TO XP21.1-P11.2, European journal of human genetics, 6(5), 1998, pp. 459-466
MUTATION SCREENING OF THE BTK GENE IN 56 FAMILIES WITH X-LINKED AGAMMAGLOBULINEMIA (XLA) - 47 UNIQUE MUTATIONS WITHOUT CORRELATION TO CLINICAL COURSE
Authors: HOLINSKIFEDER E WEISS M BRANDAU O JEDELE KB NORE B BACKESJO CM VIHINEN M HUBBARD SR BELOHRADSKY BH SMITH CIE MEINDL A
Citation: E. Holinskifeder et al., MUTATION SCREENING OF THE BTK GENE IN 56 FAMILIES WITH X-LINKED AGAMMAGLOBULINEMIA (XLA) - 47 UNIQUE MUTATIONS WITHOUT CORRELATION TO CLINICAL COURSE, Pediatrics, 101(2), 1998, pp. 276-284
A SYSTEMATIC MUTATION SCREEN OF 10 NUCLEAR AND 25 MITOCHONDRIAL CANDIDATE GENES IN 21 PATIENTS WITH CYTOCHROME-C-OXIDASE (COX) DEFICIENCY SHOWS TRNA(SER(UCN)) MUTATIONS IN A SUBGROUP WITH SYNDROMAL ENCEPHALOPATHY
Authors: JAKSCH M HOFMANN S KLEINLE S LIECHTIGALLATI S PONGRATZ DE MULLERHOCKER J JEDELE KB MEITINGER T GERBITZ KD
Citation: M. Jaksch et al., A SYSTEMATIC MUTATION SCREEN OF 10 NUCLEAR AND 25 MITOCHONDRIAL CANDIDATE GENES IN 21 PATIENTS WITH CYTOCHROME-C-OXIDASE (COX) DEFICIENCY SHOWS TRNA(SER(UCN)) MUTATIONS IN A SUBGROUP WITH SYNDROMAL ENCEPHALOPATHY, Journal of Medical Genetics, 35(11), 1998, pp. 895-900
SPINAL AND BULBAR MUSCULAR-ATROPHY (SBMA) - SOMATIC STABILITY OF AN EXPANDED CAG REPEAT IN FETAL TISSUES
Authors: JEDELE KB WAHL D CHAHROKHZADEH S WIRTZ A MURKEN J HOLINSKIFEDER E
Citation: Kb. Jedele et al., SPINAL AND BULBAR MUSCULAR-ATROPHY (SBMA) - SOMATIC STABILITY OF AN EXPANDED CAG REPEAT IN FETAL TISSUES, Clinical genetics, 54(2), 1998, pp. 148-151
LARGE INTERGENERATIONAL VARIATION IN AGE-OF-ONSET IN 2 YOUNG-PATIENTSWITH HUNTINGTONS-DISEASE PRESENTING AS DYSKINESIA
Authors: HOLINSKIFEDER E JEDELE KB HORTNAGEL K ALBERT A MEINDL A TRENKWALDER C
Citation: E. Holinskifeder et al., LARGE INTERGENERATIONAL VARIATION IN AGE-OF-ONSET IN 2 YOUNG-PATIENTSWITH HUNTINGTONS-DISEASE PRESENTING AS DYSKINESIA, Pediatrics, 100(5), 1997, pp. 896-898
DISCORDANT MONOZYGOTIC TWINS WITH THE SCHIMMELPENNING-FEUERSTEIN-MIMSSYNDROME
Authors: SCHWORM HD JEDELE KB HOLINSKI E HORTNAGEL K RUDOLPH G BOERGEN KP KAMPIK A MEITINGER T
Citation: Hd. Schworm et al., DISCORDANT MONOZYGOTIC TWINS WITH THE SCHIMMELPENNING-FEUERSTEIN-MIMSSYNDROME, Clinical genetics, 50(5), 1996, pp. 393-397
FRAXE TESTING
Authors: HOLINSKIFEDER E CHAHROKHZADEH S JEDELE KB MEINDL A STEINBACH P WOHRLE D
Citation: E. Holinskifeder et al., FRAXE TESTING, American journal of human genetics, 59(5), 1996, pp. 1168-1169
Risultati: 1-7 |