المؤلفون: Streff, Haley E., Gao, Yang, Nelson, Scott W.

المساهمون: National Science Foundation

المصدر: Biochemical and Biophysical Research Communications ; volume 526, issue 2, page 485-490 ; ISSN 0006-291X

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry, Biophysics

الإتاحة: https://doi.org/10.1016/j.bbrc.2020.02.172Test
https://api.elsevier.com/content/article/PII:S0006291X20304903?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0006291X20304903?httpAccept=text/plainTest

المؤلفون: Bostwick, Bret L., McLean, Scott, Posey, Jennifer E., Streff, Haley E., Gripp, Karen W., Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A., Farrelly, Ellyn, Hudgins, Louanne, Yang, Yaping, Xia, Fan, Wang, Xia, Liu, Pengfei, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K., Andrews, Marisa V., Hummel, Marybeth, Madan-Khetarpal, Suneeta, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John L., Rosenfeld, Jill A., Emrick, Lisa, Nugent, Kimberly M., Lupski, James R., Belmont, John W., Lee, Brendan, Lalani, Seema R.

المساهمون: Office of Strategic Coordination, National Human Genome Research Institute

المصدر: Genome Medicine ; volume 9, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-017-0463-8Test

المؤلفون: Isidor, Bertrand, Küry, Sébastien, Rosenfeld, Jill A., Besnard, Thomas, Schmitt, Sébastien, Joss, Shelagh, Davies, Sally J., Lebel, Robert Roger, Henderson, Alex, Schaaf, Christian P., Streff, Haley E., Yang, Yaping, Jain, Vani, Chida, Nodoka, Latypova, Xenia, Caignec, Cédric Le, Cogné, Benjamin, Mercier, Sandra, Vincent, Marie, Colin, Estelle, Bonneau, Dominique, Denommé, Anne-Sophie, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Piton, Amélie, Dina, Christian, Donnart, Audrey, Lindenbaum, Pierre, Charpentier, Eric, Redon, Richard, Iemura, Kenji, Ikeda, Masanori, Tanaka, Kozo, Bézieau, Stéphane

المساهمون: Physiopathologie des Adaptations Nutritionnelles (PhAN), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Génétique, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Baylor College of Medicine (BCM), Baylor University, Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), NHS Greater Glasgow & Clyde Glasgow (NHSGGC), University Hospital of Wales (UHW), SUNY Upstate Medical University, State University of New York (SUNY), Newcastle Upon Tyne Hospitals NHS Trust, Tohoku University Sendai, Service de génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Mitochondrie : Régulations et Pathologie, Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pédiatrie et de Génétique Médicale, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique Médicale, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie )-Centre de Référence Anomalies du Développement Ouest, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ITX - unité de recherche de l'institut du thorax (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Contract grant sponsors: French Ministry of Health and Health Regional Agency from Poitou-Charentes (HUGODIMS, 2013, RC14_0107), Japanese Society of Promotion of Science, Ministry of Education Culture, Sports, Science and Technology of Japan, Project for Development of Innovative Research on Cancer Therapeutics (P-Direct), The Japan Agency for Medical Research and Development, Takeda Science Foundation.

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: HP1, Intellectual disability, CHAMP1, kinetochores, microcephaly, Microtubules, POGZ, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26751395; hal-01259225; https://univ-rennes.hal.science/hal-01259225Test; https://univ-rennes.hal.science/hal-01259225/documentTest; https://univ-rennes.hal.science/hal-01259225/file/De%20Novo%20Truncating%20Mutations%20in%20the%20kinetochore-microtubules%20Isidor_et_al-2016-Human_Mutation.pdfTest; PUBMED: 26751395

الإتاحة: https://doi.org/10.1002/humu.22952Test
https://univ-rennes.hal.science/hal-01259225Test
https://univ-rennes.hal.science/hal-01259225/documentTest
https://univ-rennes.hal.science/hal-01259225/file/De%20Novo%20Truncating%20Mutations%20in%20the%20kinetochore-microtubules%20Isidor_et_al-2016-Human_Mutation.pdfTest

المؤلفون: Bostwick, Bret L, McLean, Scott, Posey, Jennifer E, Streff, Haley E, Gripp, Karen W, Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A, Farrelly, Ellyn, Hudgins, Louanne, Yang, Yaping, Xia, Fan, Wang, Xia, Liu, Pengfei, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K, Andrews, Marisa V, Hummel, Marybeth, Madan-Khetarpal, Suneeta, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John L, Rosenfeld, Jill A, Emrick, Lisa, Nugent, Kimberly M, Lupski, James R, Belmont, John W, Lee, Brendan, Lalani, Seema R

المصدر: Faculty & Staff Scholarship

وصف الملف: application/pdf

العلاقة: https://researchrepository.wvu.edu/faculty_publications/1477Test; https://researchrepository.wvu.edu/cgi/viewcontent.cgi?article=2498&context=faculty_publicationsTest

الإتاحة: https://researchrepository.wvu.edu/faculty_publications/1477Test
https://researchrepository.wvu.edu/cgi/viewcontent.cgi?article=2498&context=faculty_publicationsTest