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Results: 76-100/1909
Authors:
HUETHER CA
IVANOVICH J
GOODWIN BS
KRIVCHENIA EL
HERTZBERG VS
EDMONDS LD
MAY DS
PRIEST JH
Citation: Ca. Huether et al., MATERNAL AGE-SPECIFIC RISK RATE ESTIMATES FOR DOWN-SYNDROME AMONG LIVE BIRTHS IN WHITES AND OTHER RACES FROM OHIO AND METROPOLITAN ATLANTA,1970-1989, Journal of Medical Genetics, 35(6), 1998, pp. 482-490
Authors:
BARBER JCK
JOYCE CA
COLLINSON MN
NICHOLSON JC
WILLATT LR
DYSON HM
BATEMAN MS
GREEN AJ
YATES JRW
DENNIS NR
Citation: Jck. Barber et al., DUPLICATION OF 8P23.1 - A CYTOGENETIC ANOMALY WITH NO ESTABLISHED CLINICAL-SIGNIFICANCE, Journal of Medical Genetics, 35(6), 1998, pp. 491-496
Authors:
SALONEN R
PAAVOLA P
Citation: R. Salonen et P. Paavola, MECKEL-SYNDROME, Journal of Medical Genetics, 35(6), 1998, pp. 497-501
Authors:
KAWASHIMA T
NOGUCHI E
ARINAMI T
YAMAKAWAKOBAYASHI K
NAKAGAWA H
OTSUKA F
HAMAGUCHI H
Citation: T. Kawashima et al., LINKAGE AND ASSOCIATION OF AN INTERLEUKIN-4 GENE POLYMORPHISM WITH ATOPIC-DERMATITIS IN JAPANESE FAMILIES, Journal of Medical Genetics, 35(6), 1998, pp. 502-504
Authors:
ELCIOGLU N
HALL CM
Citation: N. Elcioglu et Cm. Hall, A LETHAL SKELETAL DYSPLASIA WITH FEATURES OF CHONDRODYSPLASIA PUNCTATA AND OSTEOGENESIS IMPERFECTA - AN EXAMPLE OF ASTLEY-KENDALL DYSPLASIA- FURTHER DELINEATION OF A RARE GENETIC DISORDER, Journal of Medical Genetics, 35(6), 1998, pp. 505-507
Authors:
DEVRIENDT K
STOFFELEN D
PFEIFFER R
LEYS A
FRYNS JP
Citation: K. Devriendt et al., OTO-ONYCHO-PERONEAL SYNDROME - CONFIRMATION OF A SYNDROME, Journal of Medical Genetics, 35(6), 1998, pp. 508-509
Authors:
JACKSON SNJ
WILLIAMS B
HOUTMAN P
TREMBATH RC
Citation: Snj. Jackson et al., THE DIAGNOSIS OF LIDDLE-SYNDROME BY IDENTIFICATION OF A MUTATION IN THE BETA-SUBUNIT OF THE EPITHELIAL SODIUM-CHANNEL, Journal of Medical Genetics, 35(6), 1998, pp. 510-512
Authors:
JUKKOLA A
KAUPPILA S
RISTELI L
VUOPALA K
RISTELI J
LEISTI J
PAJUNEN L
Citation: A. Jukkola et al., NEW LETHAL DISEASE INVOLVING TYPE-I AND TYPE-III COLLAGEN DEFECT RESEMBLING GERODERMA OSTEODYSPLASTICA, DE-BARSY-SYNDROME, AND EHLERS-DANLOS-SYNDROME-IV, Journal of Medical Genetics, 35(6), 1998, pp. 513-518
Authors:
DALTON P
COPPIN B
JAMES R
SKUSE D
JACOBS P
Citation: P. Dalton et al., 3 PATIENTS WITH A 45,X 46,X,PSU DIC(XP) KARYOTYPE/, Journal of Medical Genetics, 35(6), 1998, pp. 519-524
Authors:
HAUSER G
JENISCH A
Citation: G. Hauser et A. Jenisch, LAWS REGARDING INSURANCE COMPANIES, Journal of Medical Genetics, 35(6), 1998, pp. 526-527
Authors:
BELLINGHAM J
GREGORYEVANS CY
GREGORYEVANS K
Citation: J. Bellingham et al., MICROSATELLITE MARKERS FOR THE CONE-ROD RETINAL DYSTROPHY GENE, CRX, ON 19Q13.3, Journal of Medical Genetics, 35(6), 1998, pp. 527-527
Authors:
YU B
Citation: B. Yu, MOLECULAR PATHOLOGY OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY CAUSED BYMUTATIONS IN THE CARDIAC MYOSIN BINDING-PROTEIN-C GENE (VOL 35, PG 206, 1998), Journal of Medical Genetics, 35(6), 1998, pp. 528-528
Authors:
ALI M
RELLOS P
COX TM
Citation: M. Ali et al., HEREDITARY FRUCTOSE INTOLERANCE, Journal of Medical Genetics, 35(5), 1998, pp. 353-365
Authors:
HUTCHESSON ACJ
BUNDEY S
PREECE MA
HALL SK
GREEN A
Citation: Acj. Hutchesson et al., A COMPARISON OF DISEASE AND GENE-FREQUENCIES OF INBORN-ERRORS OF METABOLISM AMONG DIFFERENT ETHNIC-GROUPS IN THE WEST MIDLANDS, UK, Journal of Medical Genetics, 35(5), 1998, pp. 366-370
Authors:
MOSSEY PA
ARNGRIMSSON R
MCCOLL J
VINTINER GM
CONNER JM
Citation: Pa. Mossey et al., PREDICTION OF LIABILITY TO OROFACIAL CLEFTING USING GENETIC AND CRANIOFACIAL DATA FROM PARENTS, Journal of Medical Genetics, 35(5), 1998, pp. 371-378
Authors:
JONES KJ
KIM SS
NORTH KN
Citation: Kj. Jones et al., ABNORMALITIES OF DYSTROPHIN, THE SARCOGLYCANS, AND LAMININ ALPHA-2 INTHE MUSCULAR-DYSTROPHIES, Journal of Medical Genetics, 35(5), 1998, pp. 379-386
Authors:
ALVAREZ AI
AROSTEGUI E
MARTIN R
DURAN M
ONAINDIA ML
MOLINA M
TEJADA MI
Citation: Ai. Alvarez et al., MOLECULAR STUDY OF THE RHODOPSIN GENE IN RETINITIS-PIGMENTOSA PATIENTS IN THE BASQUE COUNTRY, Journal of Medical Genetics, 35(5), 1998, pp. 387-390
Authors:
ESPINOS C
NAJERA C
MILLAN JM
AYUSO C
BAIGET M
PEREZGARRIGUES H
RODRIGO O
VILELA C
BENEYTO M
Citation: C. Espinos et al., LINKAGE ANALYSIS IN USHER-SYNDROME TYPE-I (USH1) FAMILIES FROM SPAIN, Journal of Medical Genetics, 35(5), 1998, pp. 391-398
Authors:
FRANSEN E
VANCAMP G
DHOOGE R
VITS L
WILLEMS PJ
Citation: E. Fransen et al., GENOTYPE-PHENOTYPE CORRELATION IN L1 ASSOCIATED DISEASES, Journal of Medical Genetics, 35(5), 1998, pp. 399-404
Authors:
VANTONGERLOO A
DEPAEPE A
Citation: A. Vantongerloo et A. Depaepe, PSYCHOSOCIAL ADAPTATION IN ADOLESCENTS AND YOUNG-ADULTS WITH MARFAN-SYNDROME - AN EXPLORATORY-STUDY, Journal of Medical Genetics, 35(5), 1998, pp. 405-409
Authors:
SKIRTON H
BARNES C
GUILBERT P
KERSHAW A
KERZINSTORRAR L
PATCH C
CURTIS G
WALFORDMOORE J
Citation: H. Skirton et al., RECOMMENDATIONS FOR EDUCATION AND TRAINING OF GENETIC NURSES AND COUNSELORS IN THE UNITED-KINGDOM, Journal of Medical Genetics, 35(5), 1998, pp. 410-412
Authors:
CHASE DS
TAWN EJ
PARKER L
JONAS P
PARKER CO
BURN J
Citation: Ds. Chase et al., THE NORTH-CUMBRIA-COMMUNITY-GENETICS-PROJECT, Journal of Medical Genetics, 35(5), 1998, pp. 413-416
Authors:
REID E
DOUGLAS F
CROW Y
HOLLMAN A
GIBSON J
Citation: E. Reid et al., AUTOSOMAL-DOMINANT JUVENILE RECURRENT PAROTITIS, Journal of Medical Genetics, 35(5), 1998, pp. 417-419
Authors:
PEET J
WEAVER DD
VANCE GH
Citation: J. Peet et al., 49,XXXXY - A DISTINCT PHENOTYPE - 3 NEW CASES AND REVIEW, Journal of Medical Genetics, 35(5), 1998, pp. 420-424
Authors:
LONG FL
DUCKETT DP
BILLAM LJ
WILLIAMS DK
CROLLA JA
Citation: Fl. Long et al., TRIPLICATION OF 15Q11-Q13 WITH INV DUP(15) IN A FEMALE WITH DEVELOPMENTAL DELAY, Journal of Medical Genetics, 35(5), 1998, pp. 425-428