检索结果 - Carey, J. C.

Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations. 由 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 由 Carey, J.C., Raposa, K.B., Wigand, C., Warren, R.S.

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Anthropocene survival of southern New England’s salt marshes 由 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. 由 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. 由 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. 由 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. 由 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. 由 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. 由 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. 由 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. 由 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 由 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 由 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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