Zoekresultaten - Carey, J. C.

Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations. door Riccardi, V M, Carey, J C

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Contrasting decadal-scale changes in elevation and vegetation in two Long Island Sound salt marshes door Carey, J.C., Raposa, K.B., Wigand, C., Warren, R.S.

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Anthropocene survival of southern New England’s salt marshes door Watson, E.B., Raposa, K. B., Carey, J.C., Wigand, C., Warren, R.S.

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Precise localization of NF1 to 17q11.2 by balanced translocation. door Ledbetter, D H, Rich, D C, O'Connell, P, Leppert, M, Carey, J C

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Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. door Bleyl, S B, Mumford, B R, Thompson, V, Carey, J C, Pysher, T J, Chin, T K, Ward, K

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Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers. door Ward, K, O'Connell, P, Carey, J C, Leppert, M, Jolley, S, Plaetke, R, Ogden, B, White, R

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A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. door Krakowiak, P A, O'Quinn, J R, Bohnsack, J F, Watkins, W S, Carey, J C, Jorde, L B, Bamshad, M

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A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. door Bamshad, M., Watkins, W. S., Zenger, R. K., Bohnsack, J. F., Carey, J. C., Otterud, B., Krakowiak, P. A., Robertson, M., Jorde, L. B.

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Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. door Lowery, M C, Morris, C A, Ewart, A, Brothman, L J, Zhu, X L, Leonard, C O, Carey, J C, Keating, M, Brothman, A R

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Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. door Semina, E. V., Datson, N. A., Leysens, N. J., Zabel, B. U., Carey, J. C., Bell, G. I., Bitoun, P., Lindgren, C., Stevenson, T., Frants, R. R., van Ommen, G., Murray, J. C.

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The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. door Bamshad, M, Le, T, Watkins, W S, Dixon, M E, Kramer, B E, Roeder, A D, Carey, J C, Root, S, Schinzel, A, Van Maldergem, L, Gardner, R J, Lin, R C, Seidman, C E, Seidman, J G, Wallerstein, R, Moran, E, Sutphen, R, Campbell, C E, Jorde, L B

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Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type 1 door O'Connell, P., Leach, R. J., Ledbetter, D. H., Cawthon, R. M., Culver, M., Eldridge, J. R., Frej, A.-K., Holm, T. R., Wolff, E., Thayer, M. J., Schafer, A. J., Fountain, J. W., Wallace, M. R., Collins, F. S., Skolnick, M. H., Rich, D. C., Fournier, R. E. K., Baty, B. J., Carey, J. C., Leppert, M. F., Lathrop, G. M., Lalouel, J.-M., White, R.

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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function door Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M

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