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Results: 1-25/1587
Authors:
Biesecker, BB
Citation: Bb. Biesecker, Goals of genetic counseling, CLIN GENET, 60(5), 2001, pp. 323-330
Authors:
Nasir, J
Citation: J. Nasir, Right place-right time; real time protein-protein interactions, CLIN GENET, 60(5), 2001, pp. 331-332
Citation: Shutting off mammalian gene expression the easy way, CLIN GENET, 60(5), 2001, pp. 332-333
Citation: Genetic studies yield conflicting data in schizophrenia, CLIN GENET, 60(5), 2001, pp. 333-335
Authors:
Stankiewicz, P
Park, SS
Holder, SE
Waters, CS
Palmer, RW
Berend, SA
Shaffer, LG
Potocki, L
Lupski, JR
Citation: P. Stankiewicz et al., Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derivedfrom chromosome 17: molecular analysis and delineation of the phenotype, CLIN GENET, 60(5), 2001, pp. 336-344
Authors:
Koschinsky, ML
Boffa, MB
Nesheim, ME
Zinman, B
Hanley, AJG
Harris, SB
Cao, H
Hegele, RA
Citation: Ml. Koschinsky et al., Association of a single nucleotide polymorphism in CPB2 encoding the thrombin-activable fibrinolysis inhibitor (TAFI) with blood pressure, CLIN GENET, 60(5), 2001, pp. 345-349
Authors:
Henderson, JM
Huguenin, SM
Cowan, TM
Fridovich-Keil, JL
Citation: Jm. Henderson et al., A PCR-based method for detecting known mutations in the human UDP galactose-4 '-epimerase gene associated with epimerase-deficiency galactosemia, CLIN GENET, 60(5), 2001, pp. 350-355
Authors:
Hall, CR
Wu, Y
Shaffer, LG
Hecht, JT
Citation: Cr. Hall et al., Familial case of Potocki-Shaffer syndrome associated with microdeletion ofEXT2 and ALX4, CLIN GENET, 60(5), 2001, pp. 356-359
Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and Marfan: a questionnaire study
Authors:
Verbraecken, J
Declerck, A
Van de Heyning, P
De Backer, W
Wouters, EFM
Citation: J. Verbraecken et al., Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and Marfan: a questionnaire study, CLIN GENET, 60(5), 2001, pp. 360-365
Authors:
Rauen, KA
Bitts, SM
Li, L
Golabi, M
Cotter, PD
Citation: Ka. Rauen et al., Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review, CLIN GENET, 60(5), 2001, pp. 366-370
Authors:
Batanian, JR
Morris, K
Ma, E
Huang, Y
McComb, J
Citation: Jr. Batanian et al., Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype, CLIN GENET, 60(5), 2001, pp. 371-373
Authors:
Arca, M
Montali, A
Ombres, D
Battiloro, E
Campagna, F
Ricci, G
Verna, R
Citation: M. Arca et al., Lack of association of the common TaqIB polymorphism in the cholesteryl ester transfer protein gene with angiographically assessed coronary atherosclerosis, CLIN GENET, 60(5), 2001, pp. 374-380
Authors:
Avakian, SD
Annicchino-Bizzacchi, JM
Grinberg, M
Ramires, JAF
Mansur, AP
Citation: Sd. Avakian et al., Apolipoproteins AI, B, and E polymorphisms in severe aortic valve stenosis, CLIN GENET, 60(5), 2001, pp. 381-384
Authors:
Cervantes, A
Guevara-Yanez, R
Lopez, M
Monroy, N
Aguinaga, M
Valdez, H
Sierra, C
Canun, S
Guizar, J
Navarrete, C
Zafra, G
Salamanca, F
Kofman-Alfaro, S
Citation: A. Cervantes et al., PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype, CLIN GENET, 60(5), 2001, pp. 385-392
Authors:
Kroepfl, T
Milos, I
Paul, K
Plecko, B
Paschke, E
Citation: T. Kroepfl et al., The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years, CLIN GENET, 60(5), 2001, pp. 393-394
Authors:
Eggermann, T
Mergenthaler, S
Eggermann, K
Ranke, MB
Wollmann, H
Citation: T. Eggermann et al., Segmental uniparental disomy of 7q31-qter is rare in Silver-Russell syndrome, CLIN GENET, 60(5), 2001, pp. 395-396
Authors:
Martinez-Frias, M
Bermejo, E
Frias, J
Citation: M. Martinez-frias et al., 'The VACTERL association: lessons from the Sonic hedgehog pathway', CLIN GENET, 60(5), 2001, pp. 397-397
Authors:
Kim, JH
Kim, PCW
Hui, CC
Citation: Jh. Kim et al., 'The VACTERL association: lessons from the Sonic hedgehog pathway' - Reply, CLIN GENET, 60(5), 2001, pp. 398-398
Authors:
Busch, CP
Hegele, RA
Citation: Cp. Busch et Ra. Hegele, Genetic determinants of type 2 diabetes mellitus, CLIN GENET, 60(4), 2001, pp. 243-254
Authors:
Michaud, JL
Citation: Jl. Michaud, The developmental program of the hypothalamus and its disorders, CLIN GENET, 60(4), 2001, pp. 255-263
Authors:
Elterman, D
Citation: D. Elterman, Digesting genetic information in gastric cancers, CLIN GENET, 60(4), 2001, pp. 264-265
Authors:
Warby, S
Citation: S. Warby, Pulling roots of the thorny chorea-acanthocytosis, CLIN GENET, 60(4), 2001, pp. 266-267
Authors:
Coburn, BA
Citation: Ba. Coburn, Neurodegeneration: iron weighs in, CLIN GENET, 60(4), 2001, pp. 267-269
Authors:
Chudley, AE
Citation: Ae. Chudley, Genetic landmarks through philately - Charles Robert Darwin, CLIN GENET, 60(4), 2001, pp. 270-272
Authors:
Peters, KF
Kong, F
Horne, R
Francomano, CA
Biesecker, BB
Citation: Kf. Peters et al., Living with Marfan syndrome I. Perceptions of the condition, CLIN GENET, 60(4), 2001, pp. 273-282