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Results: 1-12 |
Results: 12
CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS
Authors: DESTEFANO AL CUPPLES LA ARNOS KS ASHER JH BALDWIN CT BLANTON S CAREY ML DASILVA EO FRIEDMAN TB GREENBERG J LALWANI AK MILUNSKY A NANCE WE PANDYA A RAMESAR RS READ AP TASSABEJHI M WILCOX ER FARRER LA
Citation: Al. Destefano et al., CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS, Human genetics, 102(5), 1998, pp. 499-506
MITOCHONDRIAL GENE MUTATION IS A SIGNIFICANT PREDISPOSING FACTOR IN AMINOGLYCOSIDE OTOTOXICITY
Authors: FISCHELGHODSIAN N PREZANT TR CHALTRAW WE WENDT KA NELSON RA ARNOS KS FALK RE
Citation: N. Fischelghodsian et al., MITOCHONDRIAL GENE MUTATION IS A SIGNIFICANT PREDISPOSING FACTOR IN AMINOGLYCOSIDE OTOTOXICITY, American journal of otolaryngology, 18(3), 1997, pp. 173-178
PHENOTYPIC VARIATION IN WAARDENBURG SYNDROME - MUTATIONAL HETEROGENEITY, MODIFIER GENES OR POLYGENIC BACKGROUND
Authors: PANDYA A XIA XJ LANDA BL ARNOS KS ISRAEL J LLOYD J JAMES AL DIEHL SR BLANTON SH NANCE WE
Citation: A. Pandya et al., PHENOTYPIC VARIATION IN WAARDENBURG SYNDROME - MUTATIONAL HETEROGENEITY, MODIFIER GENES OR POLYGENIC BACKGROUND, Human molecular genetics, 5(4), 1996, pp. 497-502
MAJOR-LOCUS CONTRIBUTIONS TO VARIABILITY OF THE CRANIOFACIAL FEATURE DYSTOPIA CANTHORUM IN WAARDENBURG SYNDROME
Authors: REYNOLDS JE MARAZITA ML MEYER JM STEVENS CA EAVES LJ ARNOS KS PLOUGHMAN LM MACLEAN C NANCE WE DIEHL SR
Citation: Je. Reynolds et al., MAJOR-LOCUS CONTRIBUTIONS TO VARIABILITY OF THE CRANIOFACIAL FEATURE DYSTOPIA CANTHORUM IN WAARDENBURG SYNDROME, American journal of human genetics, 58(2), 1996, pp. 384-392
ANALYSIS OF VARIABILITY OF CLINICAL MANIFESTATIONS IN WAARDENBURG SYNDROME
Authors: REYNOLDS JE MEYER JM LANDA B STEVENS CA ARNOS KS ISRAEL J MARAZITA ML BODURTHA J NANCE WE DIEHL SR
Citation: Je. Reynolds et al., ANALYSIS OF VARIABILITY OF CLINICAL MANIFESTATIONS IN WAARDENBURG SYNDROME, American journal of medical genetics, 57(4), 1995, pp. 540-547
ANALYSIS OF LOCUS HETEROGENEITY IN WAARDENBURG-SYNDROME TYPE-1 AND TYPE-2 USING HIGHLY INFORMATIVE MICROSATELLITE MARKERS
Authors: REYNOLDS JE ARNOS KS LANDA B STEVENS CA SALBERT BA WRIGHT L DUKE B HUNT W MARAZITA ML PLOUGHMAN L MACLEAN C NANCE WE DIEHL SR
Citation: Je. Reynolds et al., ANALYSIS OF LOCUS HETEROGENEITY IN WAARDENBURG-SYNDROME TYPE-1 AND TYPE-2 USING HIGHLY INFORMATIVE MICROSATELLITE MARKERS, Human heredity, 45(5), 1995, pp. 243-252
GENETIC EPIDEMIOLOGIC-STUDY OF HEARING-LOSS IN AN ADULT-POPULATION
Authors: SILL AM STICK MJ PRENGER VL PHILLIPS SL BOUGHMAN JA ARNOS KS
Citation: Am. Sill et al., GENETIC EPIDEMIOLOGIC-STUDY OF HEARING-LOSS IN AN ADULT-POPULATION, American journal of medical genetics, 54(2), 1994, pp. 149-153
HEREDITARY HEARING-LOSS
Authors: ARNOS KS
Citation: Ks. Arnos, HEREDITARY HEARING-LOSS, The New England journal of medicine, 331(7), 1994, pp. 469-470
LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS PREDICTIVE OF CLINICAL SUBTYPES
Authors: FARRER LA ARNOS KS ASHER JH BALDWIN CT DIEHL SR FRIEDMAN TB GREENBERG J GRUNDFAST KM HOTH C LALWANI AK LANDA B LEVERTON K MILUNSKY A MORELL R NANCE WE NEWTON V RAMESAR R RAO VS REYNOLDS JE SANAGUSTIN TB WILCOX ER WINSHIP I READ AP
Citation: La. Farrer et al., LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS PREDICTIVE OF CLINICAL SUBTYPES, American journal of human genetics, 55(4), 1994, pp. 728-737
MITOCHONDRIAL RIBOSOMAL-RNA MUTATION ASSOCIATED WITH BOTH ANTIBIOTIC-INDUCED AND NON-SYNDROMIC DEAFNESS
Authors: PREZANT TR AGAPIAN JV BOHLMAN MC BU XD OZTAS S QIU WQ ARNOS KS CORTOPASSI GA JABER L ROTTER JI SHOHAT M FISCHELGHODSIAN N
Citation: Tr. Prezant et al., MITOCHONDRIAL RIBOSOMAL-RNA MUTATION ASSOCIATED WITH BOTH ANTIBIOTIC-INDUCED AND NON-SYNDROMIC DEAFNESS, Nature genetics, 4(3), 1993, pp. 289-294
GENETIC-MAPPING IN THE VICINITY OF THE WAARDENBURG SYNDROME GENE (WS1)
Authors: REYNOLDS JE LANDA B DUKE B ARNOS KS STEVENS C HUNT W CASE S ISRAEL J MARAZITA M BODURTHA J MACLEAN C MEYER J NANCE WE DIEHL SR
Citation: Je. Reynolds et al., GENETIC-MAPPING IN THE VICINITY OF THE WAARDENBURG SYNDROME GENE (WS1), Cytogenetics and cell genetics, 64(2), 1993, pp. 92-92
GENETIC EPIDEMIOLOGIC STUDIES OF EARLY-ONSET DEAFNESS IN THE UNITED-STATES SCHOOL-AGE POPULATION
Authors: MARAZITA ML PLOUGHMAN LM RAWLINGS B REMINGTON E ARNOS KS NANCE WE
Citation: Ml. Marazita et al., GENETIC EPIDEMIOLOGIC STUDIES OF EARLY-ONSET DEAFNESS IN THE UNITED-STATES SCHOOL-AGE POPULATION, American journal of medical genetics, 46(5), 1993, pp. 486-491
Risultati: 1-12 |