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Results: 1-10 |
Results: 10
AN UNUSUALLY SMALL 55 REPEAT MJD1 CAG ALLELE IN A PATIENT WITH MACHADO-JOSEPH-DISEASE
Authors: QUAN F EGAN R JOHNSON DB POPOVICH BW
Citation: F. Quan et al., AN UNUSUALLY SMALL 55 REPEAT MJD1 CAG ALLELE IN A PATIENT WITH MACHADO-JOSEPH-DISEASE, American journal of human genetics, 61(4), 1997, pp. 1860-1860
UNIPARENTAL DISOMY OF THE ENTIRE X-CHROMOSOME IN A FEMALE WITH DUCHENNE MUSCULAR-DYSTROPHY
Authors: QUAN F JANAS J TOTHFEJEL S JOHNSON DB WOLFORD JK POPOVICH BW
Citation: F. Quan et al., UNIPARENTAL DISOMY OF THE ENTIRE X-CHROMOSOME IN A FEMALE WITH DUCHENNE MUSCULAR-DYSTROPHY, American journal of human genetics, 60(1), 1997, pp. 160-165
THE IMPACT OF IMPRINTING - PRADER-WILLI-SYNDROME RESULTING FROM CHROMOSOME-TRANSLOCATION, RECOMBINATION, AND NONDISJUNCTION
Authors: TOTHFEJEL SE OLSON S GUNTER K QUAN F WOLFORD J POPOVICH BW MAGENIS RE
Citation: Se. Tothfejel et al., THE IMPACT OF IMPRINTING - PRADER-WILLI-SYNDROME RESULTING FROM CHROMOSOME-TRANSLOCATION, RECOMBINATION, AND NONDISJUNCTION, American journal of human genetics, 58(5), 1996, pp. 1008-1016
SPONTANEOUS DELETION IN THE FMR1 GENE IN A PATIENT WITH FRAGILE-X SYNDROME AND CHERUBISM
Authors: QUAN F GROMPE M JAKOBS P POPOVICH BW
Citation: F. Quan et al., SPONTANEOUS DELETION IN THE FMR1 GENE IN A PATIENT WITH FRAGILE-X SYNDROME AND CHERUBISM, Human molecular genetics, 4(9), 1995, pp. 1681-1684
A NOVEL CAG REPEAT CONFIGURATION IN THE SCA1 GENE - IMPLICATIONS FOR THE MOLECULAR DIAGNOSTICS OF SPINOCEREBELLAR ATAXIA TYPE-1
Authors: QUAN F JANAS J POPOVICH BW
Citation: F. Quan et al., A NOVEL CAG REPEAT CONFIGURATION IN THE SCA1 GENE - IMPLICATIONS FOR THE MOLECULAR DIAGNOSTICS OF SPINOCEREBELLAR ATAXIA TYPE-1, Human molecular genetics, 4(12), 1995, pp. 2411-2413
A NOVEL CAG REPEAT CONFIGURATION IN THE ATAXIN-1 GENE - IMPLICATIONS FOR THE MOLECULAR DIAGNOSTICS OF SPINOCEREBELLAR ATAXIA TYPE-1
Authors: POPOVICH BW JANUS J QUAN F
Citation: Bw. Popovich et al., A NOVEL CAG REPEAT CONFIGURATION IN THE ATAXIN-1 GENE - IMPLICATIONS FOR THE MOLECULAR DIAGNOSTICS OF SPINOCEREBELLAR ATAXIA TYPE-1, American journal of human genetics, 57(4), 1995, pp. 1297-1297
ALLELIC SIZE LADDERS FCR THE ACCURATE SIZING OF TRINUCLEOTIDE REPEATSIN HUNTINGTON DISEASE AND FRAGILE-X SYNDROME
Authors: JOHNSON DB QUAN F BUCHANNAN JA POPOVICH BW
Citation: Db. Johnson et al., ALLELIC SIZE LADDERS FCR THE ACCURATE SIZING OF TRINUCLEOTIDE REPEATSIN HUNTINGTON DISEASE AND FRAGILE-X SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1921-1921
THE IDENTIFICATION OF FIBRILLIN MUTATIONS IN MARFAN-SYNDROME USING HETERODUPLEX ANALYSIS AND NUCLEOTIDE SEQUENCING
Authors: QUAN F SAKAI L POPOVICH BW
Citation: F. Quan et al., THE IDENTIFICATION OF FIBRILLIN MUTATIONS IN MARFAN-SYNDROME USING HETERODUPLEX ANALYSIS AND NUCLEOTIDE SEQUENCING, American journal of human genetics, 57(4), 1995, pp. 1936-1936
AN ATYPICAL CASE OF FRAGILE-X SYNDROME CAUSED BY A DELETION THAT INCLUDES THE FMRI GENE
Authors: QUAN F ZONANA J GUNTER K PETERSON KL MAGENIS RE POPOVICH BW
Citation: F. Quan et al., AN ATYPICAL CASE OF FRAGILE-X SYNDROME CAUSED BY A DELETION THAT INCLUDES THE FMRI GENE, American journal of human genetics, 56(5), 1995, pp. 1042-1051
LENGTH OF UNINTERRUPTED CGG REPEATS DETERMINES INSTABILITY IN THE FMR1 GENE
Authors: EICHLER EE HOLDEN JJA POPOVICH BW REISS AL SNOW K THIBODEAU SN RICHARDS CS WARD PA NELSON DL
Citation: Ee. Eichler et al., LENGTH OF UNINTERRUPTED CGG REPEATS DETERMINES INSTABILITY IN THE FMR1 GENE, Nature genetics, 8(1), 1994, pp. 88-94
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