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Results: 1-10 |
Results: 10
GENETIC TESTING OF CHILDREN AT RISK FOR HUNTINGTONS-DISEASE
Authors: NANCE MA ABRAMSON R ASHIZAWA T CODORI AM FOX M GETTIG B MYERS RH QUAID K SELTZER W SHEA DK WEXLER N ZANKO A PROUD V RICHTER S HAUCK L BROOME D BASS H JONES OW ZANKO A BODELL A TAYLOR L HAVERKAMP C HEIMLER A DIMAIO M HAUN R DIAMOND T JONES R YIM D DONLON S EVERS C SHANNON K LEBEL R POLZIN S MILLER J QUAID K GRAY C GODFREY N MYERS R UHLMANN W LUDOWESE C LEROY B OTTO E JOHNSON J MCCORMACK M COPE J PALLADINO L LEWIS J MCKENNA C HICKEY C THOMSON L WATERSON J HUELSMAN K LINARD S SCHAEFER F RUBENSTEIN J KOVAK K GOODWIN D GODMILOW L SCHRAMKE C SKOREYSOLLBERG P POTTER N HANNIG V BROOKSHIRE G HELLER K KESTER M LEONARD K MENGDEN GA BATY B ALLINSON P BENNETT R HINER B GOONEWARDENA P SPECTOR E MCINTOSH N MUELLER OT SHOFFNER J BERRYKRAVIS E DEMARCHI J KASCH L MATTHIASHAGEN V BARTHOLOMEW D PRIOR T SCHAEFER F GOODWIN D VNENCAKJONES C POTTER N RICHARDS S
Citation: Ma. Nance et al., GENETIC TESTING OF CHILDREN AT RISK FOR HUNTINGTONS-DISEASE, Neurology, 49(4), 1997, pp. 1048-1053
UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT
Authors: PAPENHAUSEN PR MUELLER OT SUTCLIFFE M DIAMOND TM KOUSSEFF BG JOHNSON VP
Citation: Pr. Papenhausen et al., UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT, American journal of medical genetics, 66(1), 1996, pp. 90-90
FRAGILE-X SYNDROME - DISCORDANT LEVELS OF CGG REPEAT MOSAICISM IN 2 BROTHERS
Authors: MUELLER OT HARTSFIELD JK AMAR MJA GALLARDO LA KOUSSEFF BG
Citation: Ot. Mueller et al., FRAGILE-X SYNDROME - DISCORDANT LEVELS OF CGG REPEAT MOSAICISM IN 2 BROTHERS, American journal of medical genetics, 60(4), 1995, pp. 302-306
UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT
Authors: PAPENHAUSEN PR MUELLER OT JOHNSON VP SUTCLIFFE M DIAMOND TM KOUSSEFF BG
Citation: Pr. Papenhausen et al., UNIPARENTAL ISODISOMY OF CHROMOSOME-14 IN 2 CASES - AN ABNORMAL CHILDAND A NORMAL ADULT, American journal of medical genetics, 59(3), 1995, pp. 271-275
UNIQUE INTERSTITIAL DELETION OF CHROMOSOME 7Q
Authors: ARTIGASLOPEZ M SUTPHEN R MUELLER OT DIAMOND TJ ESSIG YP KOUSSEFF BG
Citation: M. Artigaslopez et al., UNIQUE INTERSTITIAL DELETION OF CHROMOSOME 7Q, American journal of human genetics, 57(4), 1995, pp. 1789-1789
RELEVANT ISSUES IN THE IDENTIFICATION OF INTERMEDIATE ALLELES FOR THECTG EXPANSION IN HUNTINGTON DISEASE
Authors: MUELLER OT DIAMOND TM SCHAEFER FV
Citation: Ot. Mueller et al., RELEVANT ISSUES IN THE IDENTIFICATION OF INTERMEDIATE ALLELES FOR THECTG EXPANSION IN HUNTINGTON DISEASE, American journal of human genetics, 57(4), 1995, pp. 1970-1970
CORRECTION OF MUCOLIPIDOSIS-III IN-VITRO BY GENE-TRANSFER
Authors: FOWLER ML FAN YS MUELLER OT HENRY WM SHOWS TB
Citation: Ml. Fowler et al., CORRECTION OF MUCOLIPIDOSIS-III IN-VITRO BY GENE-TRANSFER, Genomics, 18(2), 1993, pp. 236-243
UNIPARENTAL DISOMY FOR CHROMOSOME-14 - EVIDENCE FOR AN IMPRINTING EFFECT
Authors: DIAMOND TM MUELLER OT SUTCLIFFE M PAPENHAUSEN PR TEDESCO TA KOUSSEFF BG
Citation: Tm. Diamond et al., UNIPARENTAL DISOMY FOR CHROMOSOME-14 - EVIDENCE FOR AN IMPRINTING EFFECT, American journal of human genetics, 53(3), 1993, pp. 541-541
FRAGILE X-SYNDROME - DISCORDANT EXPRESSION OF FMR-1 WITH IDENTICAL SMALL CGG INSERTS IN 2 BROTHERS
Authors: MUELLER OT HARTSFIELD JK GALLARDO LA KOUSSEFF BG
Citation: Ot. Mueller et al., FRAGILE X-SYNDROME - DISCORDANT EXPRESSION OF FMR-1 WITH IDENTICAL SMALL CGG INSERTS IN 2 BROTHERS, American journal of human genetics, 53(3), 1993, pp. 1206-1206
MATERNAL ISODISOMY 16 IN A NORMAL 46, XX FOLLOWING TRISOMIC CONCEPTION
Authors: SUTCLIFFE MJ MUELLER OT GALLARDO LA PAPENHAUSEN PR TEDESCO TA
Citation: Mj. Sutcliffe et al., MATERNAL ISODISOMY 16 IN A NORMAL 46, XX FOLLOWING TRISOMIC CONCEPTION, American journal of human genetics, 53(3), 1993, pp. 1464-1464
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