المؤلفون: Kandt, RS, Haines, JL, Smith, M, Northrup, H, Gardner, RJM, Short, MP, Dumars, K, Roach, ES, Steingold, S, Wall, S, Blanton, SH, Flodman, P, Kwiatkowski, DJ, Jewell, A, Weber, JL, Roses, AD, Pericak-Vance, MA

المصدر: Nature Genetics. 2(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Polycystic Kidney Disease, Brain Disorders, Rare Diseases, Tuberous Sclerosis, Kidney Disease, Alleles, Chromosomes, Human, Pair 16, Female, Genes, Dominant, Genetic Linkage, Genetic Markers, Humans, Lod Score, Male, Pedigree, Polycystic Kidney, Autosomal Dominant, allele, article, chromosome 16, dominant gene, female, genetic linkage, genetic marker, genetics, human, kidney polycystic disease, male, pedigree, tuberous sclerosis, Human, Linkage, Support, Non-U.S. Gov't, Support, U.S. Gov't, P.H.S., Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2sd6j0xc

المؤلفون: Smith, Moyra, Smalley, S, Cantor, R, Pandolfo, M, Gomez, MI, Baumann, R, Flodman, P, Yoshiyama, K, Nakamura, Y, Julier, C, Dumars, K, Haines, J, Trofatter, J, Spence, MA, Weeks, D, Conneally, M

المصدر: Genomics. 6(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Tuberous Sclerosis, Human Genome, Brain Disorders, Rare Diseases, Neurosciences, Alleles, Chromosome Mapping, Chromosomes, Human, Pair 11, Genetic Linkage, Humans, Lod Score, Pedigree, article, chromosome 11q, clinical article, gene location, gene mapping, genetic engineering, heredity, human, human cell, tuberous sclerosis, Human, Linkage, Support, Non-U.S. Gov't, Support, U.S. Gov't, P.H.S., Genetta, Information Systems, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0fv7d9cp

المؤلفون: Cesario, T., Goldstein, A., Lindsey, M., Dumars, K., Tilles, J.

المصدر: Proceedings of the Society for Experimental Biology & Medicine; Dec1981, Vol. 168 Issue 3, p403-407, 5p

المؤلفون: Dumars, K. W., Kitzmiller, Nancy, Gaskill, Catherine

المصدر: Cancer (0008543X); Jun1967, Vol. 20 Issue 6, p1006-1014, 9p

المؤلفون: Dumars, K W, Carnahan, L G, Barrett, R V

المصدر: Journal of Medical Genetics; Mar1970, Vol. 7 Issue 1, p86-90, 5p, 4 Black and White Photographs, 1 Chart

المؤلفون: Baldwin, C T, Constantinou, C D, Dumars, K W, Prockop, D J

المصدر: Journal of Biological Chemistry; February 1989, Vol. 264 Issue: 5 p3002-3006, 5p

المؤلفون: DUMARS, K. W., GASKILL, CATHERINE, KITZMILLER, NANCY

المصدر: American Journal of Diseases of Children; November 1964, Vol. 108 Issue: 5 p533-537, 5p

المؤلفون: HORNER, F. A., STREAMER, C. W., CLADER, D. E., HASSELL, L. L., BINKLEY, E. L., DUMARS, K. W.

المصدر: AMA Journal of Diseases of Children; June 1957, Vol. 93 Issue: 6 p615-618, 4p

المؤلفون: Baldwin, C. T., Constantinou-Deltas, Constantinos D., Dumars, K. W., Prockop, D. J.

المساهمون: Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

المصدر: Journal of Biological Chemistry
J.Biol.Chem.

مصطلحات موضوعية: heredity, Protein Conformation, Molecular Sequence Data, Glycine, Variation (Genetics), procollagen, osteogenesis imperfecta, Support, U.S. Gov't, P.H.S, fibroblast, Genes, Structural, mutant protein, Reference Values, case report, human, Amino Acid Sequence, Support, Non-U.S. Gov't, Cloning, Molecular, collagen type 1, Skin, collagen alpha2 chain, Base Sequence, Infant, Newborn, thermostability, priority journal, protein stability, Mutation, aspartic acid, Female, Genes, Lethal, amino acid substitution

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4485::62d9864df86ec3374e6477379236eb83
http://gnosis.library.ucy.ac.cy/handle/7/52945

المؤلفون: Gellis, Sydney S., Feingold, Murray, Dumars, K. W.

المصدر: American Journal of Diseases of Children; February 1970, Vol. 119 Issue: 2 p139-140, 2p