検索結果 - Meck, Jeanne

Statement on guidance for genetic counseling in advanced paternal age 著者: Toriello, Helga V., Meck, Jeanne M.

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Holoprosencephaly due to Numeric Chromosome Abnormalities 著者: Solomon, Benjamin D., Rosenbaum, Kenneth N., Meck, Jeanne M., Muenke, Maximilian

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Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature 著者: Brooks, Brian P, Meck, Jeanne M, Haddad, Bassem R, Bendavid, Claude, Blain, Delphine, Toretsky, Jeffrey A

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Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)] 著者: Zafer, Emre, Meck, Jeanne, Gerrad, Liora, Pras, Elon, Frydman, Moshe, Reish, Orit, Avni, Isaac, Pras, Eran

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Uniparental disomy in a population of 32,067 clinical exome trios 著者: Scuffins, Julie, Keller-Ramey, Jennifer, Dyer, Lindsay, Douglas, Ganka, Torene, Rebecca, Gainullin, Vladimir, Juusola, Jane, Meck, Jeanne, Retterer, Kyle

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Long-term persistence of nonpathogenic clonal chromosome abnormalities in donor hematopoietic cells following allogenic stem cell transplantation 著者: Erdag, Gulsun, Meck, Jeanne, Meloni-Ehrig, Aurelia, Matyakhina, Ludmila, Donohue, Theresa, Srinivasan, Ramaprasad, Mowrey, Philip, Kelly, JoAnn, Smith, Aleah, Childs, Richard

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Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen 著者: Rosenberg, Marjorie J., Vaske, David, Killoran, Christina E., Ning, Yi, Wargowski, David, Hudgins, Louanne, Tifft, Cynthia J., Meck, Jeanne, Blancato, Jan K., Rosenbaum, Kenneth, Pauli, Richard M., Weber, James, Biesecker, Leslie G.

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Cooperation of tumor-derived HBx mutants and p53-249(ser) mutant in regulating cell proliferation, anchorage-independent growth and aneuploidy in a telomerase-immortalized normal h... 著者: Jiang, Weidong, Wang, Xin Wei, Unger, Tamar, Forgues, Marshonna, Kim, Jin Woo, Hussain, S. Perwez, Bowman, Elise, Spillare, Elisa A., Lipsky, Michael M., Meck, Jeanne M., Cavalli, Luciane R., Haddad, Bassem R., Harris, Curtis C.

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Intrauterine growth retardation associated with precocious puberty and Sertoli cell hyperplasia 著者: Lodish, Maya B., Gartner, Lou Ann, Albini, Paul, Brodie, Angela, Meck, Jeanne M., Meloni-Ehrig, Aurelia M, Hill, Suvimol, Tsilou, Ekaterini, Carney, J. Aidan, Valera, Vladimir A., Walter, Beatriz A., Merino, Maria J., Stratakis, Constantine A.

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Copy Number Variant Discrepancy Resolution Using the ClinGen Dosage Sensitivity Map Results in Updated Clinical Interpretations in ClinVar 著者: Riggs, Erin R., Nelson, Tristan, Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin D., Collinson, Morag N., Fan, Yao-Shan, Goodenberger, McKinsey L., Golden, Denae M., Haglund-Hazy, Linda, Krgovic, Danijela, Lamb, Allen N., Lewis, Zoe, Li, Guang, Liu, Yajuan, Meck, Jeanne, Neufeld-Kaiser, Whitney, Runke, Cassandra K., Sanmann, Jennifer N., Stavropoulos, Dimitri J., Strong, Emma, Su, Meng, Tayeh, Marwan K., Vokac, Nadja Kokalj, Thorland, Erik C., Andersen, Erica, Martin, Christa L.

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