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Results: 1-23 |
Results: 23
THE HEREDITARY DYSTONIAS - AN EMERGING STORY WITH A TWIST
Authors: KORF BR
Citation: Br. Korf, THE HEREDITARY DYSTONIAS - AN EMERGING STORY WITH A TWIST, Annals of neurology, 44(1), 1998, pp. 4-5
COMPLEX FAMILIAL REARRANGEMENT OF CHROMOSOME 9P24.3 DETECTED BY FISH
Authors: REPETTO GM WAGSTAFF J KORF BR KNOLL JHM
Citation: Gm. Repetto et al., COMPLEX FAMILIAL REARRANGEMENT OF CHROMOSOME 9P24.3 DETECTED BY FISH, American journal of medical genetics, 76(4), 1998, pp. 306-309
GENETIC-HETEROGENEITY OF SAETHRE-CHOTZEN-SYNDROME, DUE TO TWIST AND FGFR MUTATIONS
Authors: PAZNEKAS WA CUNNINGHAM ML HOWARD TD KORF BR LIPSON MH GRIX AW FEINGOLD M GOLDBERG R BOROCHOWITZ Z ALECK K MULLIKEN J YIN MF JABS EW
Citation: Wa. Paznekas et al., GENETIC-HETEROGENEITY OF SAETHRE-CHOTZEN-SYNDROME, DUE TO TWIST AND FGFR MUTATIONS, American journal of human genetics, 62(6), 1998, pp. 1370-1380
NEUROCUTANEOUS SYNDROMES - NEUROFIBROMATOSIS-1, NEUROFIBROMATOSIS-2, AND TUBEROUS SCLEROSIS
Authors: KORF BR
Citation: Br. Korf, NEUROCUTANEOUS SYNDROMES - NEUROFIBROMATOSIS-1, NEUROFIBROMATOSIS-2, AND TUBEROUS SCLEROSIS, Current opinion in neurology, 10(2), 1997, pp. 131-136
SOMATIC MOSAICISM FOR DELETION OF THE ENTIRE NF1 GENE IDENTIFIED BY FISH
Authors: WU BL BOLES RG YAARI H WEREMOWICZ S SCHNEIDER GH KORF BR
Citation: Bl. Wu et al., SOMATIC MOSAICISM FOR DELETION OF THE ENTIRE NF1 GENE IDENTIFIED BY FISH, Human genetics, 99(2), 1997, pp. 209-213
DELETION OF THE ENTIRE NF1 GENE CAUSING DISTINCT MANIFESTATIONS IN A FAMILY
Authors: WU BL SCHNEIDER GH KORF BR
Citation: Bl. Wu et al., DELETION OF THE ENTIRE NF1 GENE CAUSING DISTINCT MANIFESTATIONS IN A FAMILY, American journal of medical genetics, 69(1), 1997, pp. 98-101
DIRECT SEQUENCING OF DYSTROPHIN EXONS AS A PRACTICAL METHOD OF MUTATION DETECTION
Authors: BENNETT RR AUSTIN MA KORF BR KUNKE LM
Citation: Rr. Bennett et al., DIRECT SEQUENCING OF DYSTROPHIN EXONS AS A PRACTICAL METHOD OF MUTATION DETECTION, American journal of human genetics, 61(4), 1997, pp. 1258-1258
RAPID FLUORESCENT DETECTION OF CA POLYMORPHISMS IN 5'-REGION AND 3'-REGION OF THE DYSTROPHIN GENE
Authors: WU BL FEENER CA AUSTIN MA BENNETT RR KUNKEL LM KORF BR
Citation: Bl. Wu et al., RAPID FLUORESCENT DETECTION OF CA POLYMORPHISMS IN 5'-REGION AND 3'-REGION OF THE DYSTROPHIN GENE, American journal of human genetics, 61(4), 1997, pp. 1758-1758
IDENTIFICATION AND ANALYSIS OF NONDELETION DYSTROPHIN MUTATIONS
Authors: AUSTIN MA KORF BR
Citation: Ma. Austin et Br. Korf, IDENTIFICATION AND ANALYSIS OF NONDELETION DYSTROPHIN MUTATIONS, American journal of human genetics, 61(4), 1997, pp. 2389-2389
ADVANCES IN MOLECULAR DIAGNOSIS
Authors: KORF BR
Citation: Br. Korf, ADVANCES IN MOLECULAR DIAGNOSIS, Current opinion in obstetrics & gynecology, 8(2), 1996, pp. 130-134
PITFALLS IN THE INTERPRETATION OF MOLECULAR DIAGNOSTIC-TESTS
Authors: KORF BR
Citation: Br. Korf, PITFALLS IN THE INTERPRETATION OF MOLECULAR DIAGNOSTIC-TESTS, Journal of clinical laboratory analysis, 10(6), 1996, pp. 368-374
ARMS TEST FOR DIAGNOSIS OF FACTOR V-LEIDEN MUTATION, A COMMON-CAUSE OF INHERITED THROMBOTIC TENDENCY
Authors: YANDAVA CN ZAPPULLA DC KORF BR NEUFELD EJ
Citation: Cn. Yandava et al., ARMS TEST FOR DIAGNOSIS OF FACTOR V-LEIDEN MUTATION, A COMMON-CAUSE OF INHERITED THROMBOTIC TENDENCY, Journal of clinical laboratory analysis, 10(6), 1996, pp. 414-417
OPHTHALMOLOGICAL ISSUES IN THE NEUROFIBROMATOSES
Authors: KORF BR
Citation: Br. Korf, OPHTHALMOLOGICAL ISSUES IN THE NEUROFIBROMATOSES, Journal of pediatric ophthalmology and strabismus, 33(4), 1996, pp. 255-259
NEUROBEHAVIORAL PROFILES OF CHILDREN WITH NEUROFIBROMATOSIS-1 REFERRED FOR LEARNING-DISABILITIES ARE SEX-SPECIFIC
Authors: CHAPMAN CA WABER DP BASSETT N URION DK KORF BR
Citation: Ca. Chapman et al., NEUROBEHAVIORAL PROFILES OF CHILDREN WITH NEUROFIBROMATOSIS-1 REFERRED FOR LEARNING-DISABILITIES ARE SEX-SPECIFIC, American journal of medical genetics, 67(2), 1996, pp. 127-132
DISTAL 8P DELETION (8)(P23.1) - AN EASILY MISSED CHROMOSOMAL ABNORMALITY THAT MAY BE ASSOCIATED WITH CONGENITAL HEART DEFECT AND MENTAL-RETARDATION
Authors: WU BL SCHNEIDER GH SABATINO DE BOZOVIC LZ CAO B KORF BR
Citation: Bl. Wu et al., DISTAL 8P DELETION (8)(P23.1) - AN EASILY MISSED CHROMOSOMAL ABNORMALITY THAT MAY BE ASSOCIATED WITH CONGENITAL HEART DEFECT AND MENTAL-RETARDATION, American journal of medical genetics, 62(1), 1996, pp. 77-83
17Q INVERSION INVOLVING THE NEUROFIBROMATOSIS TYPE ONE LOCUS IN A FAMILY WITH NEUROFIBROMATOSIS TYPE ONE
Authors: ASAMOAH A NORTH K DORAN S WAGSTAFF J OGLE R COLLINS FS KORF BR
Citation: A. Asamoah et al., 17Q INVERSION INVOLVING THE NEUROFIBROMATOSIS TYPE ONE LOCUS IN A FAMILY WITH NEUROFIBROMATOSIS TYPE ONE, American journal of medical genetics, 60(4), 1995, pp. 312-316
DELETION OF THE ENTIRE NF1 GENE DETECTED BY FISH - 4 DELETION PATIENTS ASSOCIATED WITH SEVERE MANIFESTATIONS
Authors: WU BL AUSTIN MA SCHNEIDER GH BOLES RG KORF BR
Citation: Bl. Wu et al., DELETION OF THE ENTIRE NF1 GENE DETECTED BY FISH - 4 DELETION PATIENTS ASSOCIATED WITH SEVERE MANIFESTATIONS, American journal of medical genetics, 59(4), 1995, pp. 528-535
CHARGE ASSOCIATION IN A CHILD WITH DE-NOVO INVERTED DUPLICATION (14)(Q22-]Q24.3)
Authors: NORTH KN WU BL CAO BN WHITEMAN DAH KORF BR
Citation: Kn. North et al., CHARGE ASSOCIATION IN A CHILD WITH DE-NOVO INVERTED DUPLICATION (14)(Q22-]Q24.3), American journal of medical genetics, 57(4), 1995, pp. 610-614
DETECTION OF FACTOR V-LEIDEN BY A PCR-BASED ARMS ASSAY IN PEDIATRIC-PATIENTS
Authors: YANDAVA CN ZAPPULLA DC KORF BR NEUFELD EJ
Citation: Cn. Yandava et al., DETECTION OF FACTOR V-LEIDEN BY A PCR-BASED ARMS ASSAY IN PEDIATRIC-PATIENTS, Blood, 86(10), 1995, pp. 3698-3698
DELETION OF ENTIRE NF1 GENE DETECTED BY FISH - 4 DELETION PATIENTS ASSOCIATED WITH SEVERE MANIFESTATIONS
Authors: WU BL AUSTIN MA SCHNEIDER GH BOLES RG KORF BR
Citation: Bl. Wu et al., DELETION OF ENTIRE NF1 GENE DETECTED BY FISH - 4 DELETION PATIENTS ASSOCIATED WITH SEVERE MANIFESTATIONS, American journal of human genetics, 57(4), 1995, pp. 169-169
NEUROIMAGING IN CHILDREN WITH NEUROFIBROMATOSIS TYPE-1
Authors: KORF BR
Citation: Br. Korf, NEUROIMAGING IN CHILDREN WITH NEUROFIBROMATOSIS TYPE-1, The Journal of pediatrics, 122(5), 1993, pp. 834-834
PATTERNS OF SEIZURES OBSERVED IN ASSOCIATION WITH NEUROFIBROMATOSIS-1
Authors: KORF BR CARRAZANA E HOLMES GL
Citation: Br. Korf et al., PATTERNS OF SEIZURES OBSERVED IN ASSOCIATION WITH NEUROFIBROMATOSIS-1, Epilepsia, 34(4), 1993, pp. 616-620
A 17Q INVERSION INVOLVING THE NF1 LOCUS IN A FAMILY WITH NEUROFIBROMATOSIS TYPE-1
Authors: ASAMOAH A NORTH K WAGSTAFF J KORF BR
Citation: A. Asamoah et al., A 17Q INVERSION INVOLVING THE NF1 LOCUS IN A FAMILY WITH NEUROFIBROMATOSIS TYPE-1, American journal of human genetics, 53(3), 1993, pp. 1121-1121
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