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Results: 1-15 |
Results: 15
DEMYELINATING NEUROPATHY IN A PATIENT WITH MULTIPLE-SCLEROSIS AND GENOTYPIC HMSN-1
Authors: ALMSADDI M BERTORINI TE SELTZER WK
Citation: M. Almsaddi et al., DEMYELINATING NEUROPATHY IN A PATIENT WITH MULTIPLE-SCLEROSIS AND GENOTYPIC HMSN-1, Neuromuscular disorders, 8(2), 1998, pp. 87-89
RELATIVE STABILITY OF A MINIMAL CTG REPEAT EXPANSION IN A LARGE KINDRED WITH MYOTONIC-DYSTROPHY
Authors: SIMMONS Z THORNTON CA SELTZER WK RICHARDS CS
Citation: Z. Simmons et al., RELATIVE STABILITY OF A MINIMAL CTG REPEAT EXPANSION IN A LARGE KINDRED WITH MYOTONIC-DYSTROPHY, Neurology, 50(5), 1998, pp. 1501-1504
CASE-REPORT OF 2 PRESENILIN (PS-1) MUTATIONS IN A FAMILY WITH EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE (EOFAD)
Authors: ANANTH UA SELTZER WK STGEORGEHYSLOP PH WALSH A ABUELO DN
Citation: Ua. Ananth et al., CASE-REPORT OF 2 PRESENILIN (PS-1) MUTATIONS IN A FAMILY WITH EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE (EOFAD), Neurology, 50(4), 1998, pp. 4111-4111
THE DEVELOPMENT OF PRESENILIN-1 (PS-1) AS A CLINICAL DIAGNOSTIC-TEST FOR EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE
Authors: ANANTH UA JONES JG FAFEL KC SELTZER WK STGEORGEHYSLOP PH BOSS MA
Citation: Ua. Ananth et al., THE DEVELOPMENT OF PRESENILIN-1 (PS-1) AS A CLINICAL DIAGNOSTIC-TEST FOR EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE, American journal of human genetics, 61(4), 1997, pp. 1255-1255
FAMILIAL EARLY-ONSET ALZHEIMER-DISEASE ASSOCIATED WITH MUTATIONS IN PRESENILIN-1
Authors: ABUELO DN WALSH A KOSIK KS SELTZER WK
Citation: Dn. Abuelo et al., FAMILIAL EARLY-ONSET ALZHEIMER-DISEASE ASSOCIATED WITH MUTATIONS IN PRESENILIN-1, American journal of human genetics, 61(4), 1997, pp. 2386-2386
GENOTYPIC VARIATIONS OF TYPE-III COLLAGEN IN PATIENTS WITH CEREBRAL ANEURYSMS
Authors: BREGA KE SELTZER WK MUNRO LG BREEZE RE
Citation: Ke. Brega et al., GENOTYPIC VARIATIONS OF TYPE-III COLLAGEN IN PATIENTS WITH CEREBRAL ANEURYSMS, Surgical neurology, 46(3), 1996, pp. 253-256
A RATIONAL APPROACH TO CYSTIC-FIBROSIS MUTATION ANALYSIS IN HISPANICS- REPLY TO ARZIMANOGLOU ET-AL
Authors: GREBE TA DOANE WW RICHTER SF SELTZER WK JAIN KD
Citation: Ta. Grebe et al., A RATIONAL APPROACH TO CYSTIC-FIBROSIS MUTATION ANALYSIS IN HISPANICS- REPLY TO ARZIMANOGLOU ET-AL, American journal of human genetics, 59(1), 1996, pp. 269-271
EFFECTS OF THE SEX OF MYOTONIC-DYSTROPHY PATIENTS ON THE UNSTABLE TRIPLET REPEAT IN THEIR AFFECTED OFFSPRING
Authors: ASHIZAWA T DUNNE PW WARD PA SELTZER WK RICHARDS CS
Citation: T. Ashizawa et al., EFFECTS OF THE SEX OF MYOTONIC-DYSTROPHY PATIENTS ON THE UNSTABLE TRIPLET REPEAT IN THEIR AFFECTED OFFSPRING, Neurology, 44(1), 1994, pp. 120-122
CONGENITAL ADRENAL HYPOPLASIA, DUCHENNE MUSCULAR-DYSTROPHY, AND GLYCEROL KINASE-DEFICIENCY - IMPORTANCE OF LABORATORY INVESTIGATIONS IN DELINEATING A CONTIGUOUS GENE DELETION SYNDROME
Authors: COLE DEC CLARKE LA RIDDELL DC SAMSON KA SELTZER WK SALISBURY S
Citation: Dec. Cole et al., CONGENITAL ADRENAL HYPOPLASIA, DUCHENNE MUSCULAR-DYSTROPHY, AND GLYCEROL KINASE-DEFICIENCY - IMPORTANCE OF LABORATORY INVESTIGATIONS IN DELINEATING A CONTIGUOUS GENE DELETION SYNDROME, Clinical chemistry, 40(11), 1994, pp. 2099-2103
CHARACTERISTICS OF INTERGENERATIONAL CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY
Authors: ASHIZAWA T ANVRET M BAIGET M BARCELO JM BRUNNER H COBO AM DALLAPICCOLA B FENWICK RG GRANDELL U HARLEY H JUNIEN C KOCH MC KORNELUK RG LAVEDAN C MIKI T MULLEY JC DEMUNAIN AL NOVELLI G ROSES AD SELTZER WK SHAW DJ SMEETS H SUTHERLAND GR YAMAGATA H HARPER PS
Citation: T. Ashizawa et al., CHARACTERISTICS OF INTERGENERATIONAL CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY, American journal of human genetics, 54(3), 1994, pp. 414-423
GENETIC-ANALYSIS OF HISPANIC INDIVIDUALS WITH CYSTIC-FIBROSIS
Authors: GREBE TA SELTZER WK DEMARCHI J SILVA DK DOANE WW GOZAL D RICHTER SF BOWMAN CM NORMAN RA RHODES SN HERNRIED LS MURPHY S HARWOOD IR ACCURSO FJ JAIN KD
Citation: Ta. Grebe et al., GENETIC-ANALYSIS OF HISPANIC INDIVIDUALS WITH CYSTIC-FIBROSIS, American journal of human genetics, 54(3), 1994, pp. 443-446
MENTAL-RETARDATION LOCUS IN XP21 CHROMOSOME MICRODELETION
Authors: FRIES MH LEBO RV SCHONBERG SA GOLABI M SELTZER WK GITELMAN SE GOLBUS MS
Citation: Mh. Fries et al., MENTAL-RETARDATION LOCUS IN XP21 CHROMOSOME MICRODELETION, American journal of medical genetics, 46(4), 1993, pp. 363-368
NEGATIVE-CONFIGURATION ELECTRORETINOGRAM IN OREGON EYE DISEASE - CONSISTENT PHENOTYPE IN XP21 DELETION SYNDROME
Authors: PILLERS DAM SELTZER WK POWELL BR RAY PN TREMBLAY F LAROCHE GR LEWIS RA MCCABE ERB ERIKSSON AW WELEBER RG
Citation: Dam. Pillers et al., NEGATIVE-CONFIGURATION ELECTRORETINOGRAM IN OREGON EYE DISEASE - CONSISTENT PHENOTYPE IN XP21 DELETION SYNDROME, Archives of ophthalmology, 111(11), 1993, pp. 1558-1563
CHARACTERISTICS OF CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY (DM) OFFSPRING
Authors: ASHIZAWA T ANVRET M BAIGET M BRUNNER H COBO A DALLAPICOOLA B FENWICK RG HARLEY H JUNIEN C KOCH M KORNELUK RG LEVEDAN C MIKI T NOVELLI G ROSES AD SELTZER WK SMEETS H HARPER PS
Citation: T. Ashizawa et al., CHARACTERISTICS OF CONTRACTIONS OF THE CTG REPEAT IN MYOTONIC-DYSTROPHY (DM) OFFSPRING, American journal of human genetics, 53(3), 1993, pp. 2-2
GENOTYPE-PHENOTYPE CORRELATIONS IDENTIFIED BY ELECTROPHYSIOLOGY OF THE RETINA IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PATIENTS
Authors: PILLERS DM SIGESMUND DA RAY PN MUSARELLA MA TREMBLAY F SELTZER WK POWELL B MCCABE ERB SCHNUR RE PANTON C WESTALL C MURPHYE WH WELEBER RG
Citation: Dm. Pillers et al., GENOTYPE-PHENOTYPE CORRELATIONS IDENTIFIED BY ELECTROPHYSIOLOGY OF THE RETINA IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PATIENTS, American journal of human genetics, 53(3), 1993, pp. 146-146
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