Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease
Bergoffen, J., Scherer, S. S., Wang, S., Scott, M. Oronzi, Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H.
Published in Science (American Association for the Advancement of Science) (24.12.1993)
Published in Science (American Association for the Advancement of Science) (24.12.1993)
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Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene
Herasse, M, Spentchian, M, Taillandier, A, Keppler-Noreuil, K, Fliorito, A N M, Bergoffen, J, Wallerstein, R, Muti, C, Simon-Bouy, B, Mornet, E
Published in Journal of medical genetics (01.08.2003)
Published in Journal of medical genetics (01.08.2003)
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Linkage localization of X-linked Charcot-Marie-Tooth disease
BERGOFFEN, J, TROFATTER, J, PERICAK-VANCE, M. A, HAINES, J. L, CHANCE, P. F, FISCHBECK, K. H
Published in American journal of human genetics (01.02.1993)
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Published in American journal of human genetics (01.02.1993)
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Clinical and molecular characterization of patients with distal 11q deletions
PENNY, L. A, DELL'AQUILA, M, SYME, J, VOULLAIRE, L, ZELANTE, L, ZENGER-HAIN, J, JONES, O. W, EVANS, G. A, JONES, M. C, BERGOFFEN, J, CUNNIFF, C, FRYNS, J.-P, GRACE, E, GRAHAM, J. M, KOUSSEFF, B, MATTINA, T
Published in American journal of human genetics (01.03.1995)
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Published in American journal of human genetics (01.03.1995)
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Paternal transmission of congenital myotonic dystrophy
Bergoffen, J, Kant, J, Sladky, J, McDonald-McGinn, D, Zackai, E H, Fischbeck, K H
Published in Journal of medical genetics (01.07.1994)
Published in Journal of medical genetics (01.07.1994)
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Diaphragmatic hernia in tetrasomy 12p mosaicism
Bergoffen, JoAnn, Punnett, Hope, Campbell, Tamberly J., Ross, Arthur J., Ruchelli, Eduardo, Zackai, Elaine H.
Published in The Journal of pediatrics (01.04.1993)
Published in The Journal of pediatrics (01.04.1993)
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X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms
Cochrane, S, Bergoffen, J, Fairweather, N D, Müller, E, Mostacciuolo, M L, Monaco, A P, Fischbeck, K H, Haites, N E
Published in Journal of medical genetics (01.03.1994)
Published in Journal of medical genetics (01.03.1994)
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Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Bergoffen, J, Kaplan, P, Hale, D E, Bennett, M J, Berry, G T
Published in Journal of inherited metabolic disease (01.01.1993)
Published in Journal of inherited metabolic disease (01.01.1993)
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Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1
Pericak-Vance, M A, Barker, D F, Bergoffen, J A, Chance, P, Cochrane, S, Dahl, N, Exler, M C, Fain, P R, Fairweather, N D, Fischbeck, K
Published in Human heredity (01.05.1995)
Published in Human heredity (01.05.1995)
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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
Gibbons, Richard J, Bachoo, Satvinder, Picketts, David J, Aftimos, Salim, Asenbauer, Bernhard, Bergoffen, JoAnn, Berry, Susan A, Dahl, Niklas, Fryer, Alan, Keppler, Kim, Kurosawa, Kenji, Levin, Michael L, Masuno, Mitsuo, Neri, Giovanni, Pierpont, Mary Ella, Slaney, Sarah F, Higgs, Douglas R
Published in Nature genetics (01.10.1997)
Published in Nature genetics (01.10.1997)
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IUE OBSERVATIONS OF X-RAY-SELECTED STARS
BERGOFFEN, MARTIN J., STOCKE, JOHN, WALTER, FREDERICK, FLEMING, THOMAS A.
Published in Publications of the Astronomical Society of the Pacific (01.06.1988)
Published in Publications of the Astronomical Society of the Pacific (01.06.1988)
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Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry
Terdiman, Jonathan P, Levin, Theodore R, Allen, Brian A, Gum, Jr, James R, Fishbach, Andrea, Conrad, Peggy G, Miller, Glenn A, Weinberg, Vivian, Bachman, Ronald, Bergoffen, Joann, Stembridge, Ann, Toribara, Neil W, Sleisenger, Marvin H, Kim, Young S
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2002)
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2002)
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Human Muscle Acetylcholine Receptor Alpha-subunit Gene (CHRNA1) Association with Autoimmune Myasthenia Gravis in Black, Mixed-Ancestry and Caucasian Subjects
Heckmann, Jeannine M., Morrison, Karen E., Emeryk-Szajewska, Barbara, Strugalska, Halina, Bergoffen, JoAnn, Willcox, Nicholas, Newsom-Davis, John
Published in Journal of autoimmunity (01.04.1996)
Published in Journal of autoimmunity (01.04.1996)
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Conference Proceeding
Leaving No Stones Unturned: Essays on the Ancient Near East and Egypt in Honor of Donald P. Hansen
Year of Publication 21.07.2002
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