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المؤلفون: Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson
المساهمون: Dyment, David A., O'Donnell-Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, de Boer, Elke, de Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, Lopez-Giraldez, Francesc, Matise, Tara C., McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Ounap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil
المصدر: Am J Med Genet A
مصطلحات موضوعية: 0301 basic medicine, Male, ANOMALIES, INTELLECTUAL DISABILITY, Eczema, 030105 genetics & heredity, PHENOTYPE, genetic heterogeneity, Locus heterogeneity, Dubowitz syndrome, Exome, Child, Genetics (clinical), Exome sequencing, Growth Disorders, Genetics, FRAMESHIFT, Genomics, 3. Good health, VPS13B, genome sequencing, LOSS-OF-FUNCTION, Child, Preschool, symbols, Microcephaly, Female, microarray, Adolescent, DNA Copy Number Variations, Biology, NSUN2, PATIENT, DNA sequencing, Histone Deacetylases, Article, 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, ANEMIA, Genetic heterogeneity, Genome, Human, MUTATIONS, Facies, Infant, PLATFORM, medicine.disease, Repressor Proteins, 030104 developmental biology, Mendelian inheritance, exome sequencing
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59dTest
https://hdl.handle.net/11424/243257Test -
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المؤلفون: Wolfram Demaerel, Matthew S. Hestand, Elfi Vergaelen, Ann Swillen, Marcos López-Sánchez, Luis A. Pérez-Jurado, Donna M. McDonald-McGinn, Elaine Zackai, Beverly S. Emanuel, Bernice E. Morrow, Jeroen Breckpot, Koenraad Devriendt, Joris R. Vermeesch, Kevin Antshel, Celso Arango, Marco Armando, Anne Bassett, Carrie Bearden, Erik Boot, Marta Bravo-Sanchez, Elemi Breetvelt, Tiffany Busa, Nancy Butcher, Linda Campbell, Miri Carmel, Eva Chow, T. Blaine Crowley, Joseph Cubells, David Cutler, Maria Cristina Digilio, Sasja Duijff, Stephan Eliez, Beverly Emanuel, Michael Epstein, Rens Evers, Luis Fernandez Garcia-Moya, Ania Fiksinski, David Fraguas, Wanda Fremont, Rosemarie Fritsch, Sixto Garcia-Minaur, Aaron Golden, Doron Gothelf, Tingwei Guo, Ruben Gur, Raquel Gur, Damian Heine-Suner, Matthew Hestand, Stephen Hooper, Wendy Kates, Leila Kushan, Alejandra Laorden-Nieto, Johanna Maeder, Bruno Marino, Christian Marshall, Kathryn McCabe, Donna McDonald-McGinn, Elena Michaelovosky, Bernice Morrow, Edward Moss, Jennifer Mulle, Declan Murphy, Kieran Murphy, Clodagh Murphy, Maria Niarchou, Claudia Ornstein, Michael Owen, Nicole Philip, Gabriela Repetto, Maude Schneider, Vandana Shashi, Tony Simon, Flora Tassone, Marta Unolt, Therese van Amelsvoort, Marianne van den Bree, Esther Van Duin, Joris Vermeesch, Stefano Vicari, Claudia Vingerhoets, Jacob Vorstman, Steve Warren, Ronnie Weinberger, Omri Weisman, Abraham Weizman, Zhengdong Zhang, Michael Zwick
المصدر: The American Journal of Human Genetics. 101:616-622
مصطلحات موضوعية: 0301 basic medicine, Genetics, Chromosome, Low copy repeats, Biology, Structural variation, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Gene duplication, Human genome, Homologous recombination, 030217 neurology & neurosurgery, Genetics (clinical), Chromosomal inversion, Segmental duplication
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3c668c64c8777e7b474558524a21aed9Test
https://doi.org/10.1016/j.ajhg.2017.09.002Test -
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المؤلفون: Wolfram Demaerel, Matthew S. Hestand, Elfi Vergaelen, Ann Swillen, Marcos López-Sánchez, Luis A. Pérez-Jurado, Donna M. McDonald-McGinn, Elaine Zackai, Beverly S. Emanuel, Bernice E. Morrow, Jeroen Breckpot, Koenraad Devriendt, Joris R. Vermeesch, Kevin Antshel, Celso Arango, Marco Armando, Anne Bassett, Carrie Bearden, Erik Boot, Marta Bravo-Sanchez, Elemi Breetvelt, Tiffany Busa, Nancy Butcher, Linda Campbell, Miri Carmel, Eva Chow, T. Blaine Crowley, Joseph Cubells, David Cutler, Maria Cristina Digilio, Sasja Duijff, Stephan Eliez, Beverly Emanuel, Michael Epstein, Rens Evers, Luis Fernandez Garcia-Moya, Ania Fiksinski, David Fraguas, Wanda Fremont, Rosemarie Fritsch, Sixto Garcia-Minaur, Aaron Golden, Doron Gothelf, Tingwei Guo, Ruben Gur, Raquel Gur, Damian Heine-Suner, Matthew Hestand, Stephen Hooper, Wendy Kates, Leila Kushan, Alejandra Laorden-Nieto, Johanna Maeder, Bruno Marino, Christian Marshall, Kathryn McCabe, Donna McDonald-McGinn, Elena Michaelovosky, Bernice Morrow, Edward Moss, Jennifer Mulle, Declan Murphy, Kieran Murphy, Clodagh Murphy, Maria Niarchou, Claudia Ornstein, Michael Owen, Nicole Philip, Gabriela Repetto, Maude Schneider, Vandana Shashi, Tony Simon, Flora Tassone, Marta Unolt, Therese van Amelsvoort, Marianne van den Bree, Esther Van Duin, Joris Vermeesch, Stefano Vicari, Claudia Vingerhoets, Jacob Vorstman, Steve Warren, Ronnie Weinberger, Omri Weisman, Abraham Weizman, Zhengdong Zhang, Michael Zwick
المصدر: The American Journal of Human Genetics. 103:457
مصطلحات موضوعية: Genetics, DNA Copy Number Variations, Notice, Chromosome, Locus (genetics), Inversion (meteorology), Biology, Polymorphism, Single Nucleotide, Genome, Human genetics, Retraction, Meiosis, Polymorphism (computer science), Report, Chromosome Inversion, DiGeorge Syndrome, Humans, Genetic Predisposition to Disease, Chromosome Deletion, Homologous Recombination, In Situ Hybridization, Fluorescence, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d117da35c3a2f68c69992a1cff22be9aTest
https://doi.org/10.1016/j.ajhg.2018.08.011Test -
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المؤلفون: Valérie Cormier-Daire, Sahar Mansour, Stephen P. Robertson, Barbara Schroter, Sarah K. Holman, Didier Lacombe, Ravi Savarirayan, Thomas Schmitt-Mechelke, Mary Porteous, Phil Daniel, Dagmar Tapon, Sixto Garcia Minaur, Oliver Quarrell, Rachel L. Herron, Timothy R. Morgan, Bernhard Steiner, Torunn Fiskerstrand, Annette Mosel, Zandra A. Jenkins, Laurence A. Bindoff, Annick Raas-Rothschild, Chung Wo Chow, Michael W. Parker, Ruth Nash, Axel Bohring
المساهمون: University of Zurich, Robertson, S P
مصطلحات موضوعية: Male, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, DNA Mutational Analysis, Cardiomyopathy, 610 Medicine & health, Biology, Bone and Bones, Osteopathia striata, Osteosclerosis, 1311 Genetics, Genetics, medicine, Humans, Luciferases, Genetics (clinical), Adaptor Proteins, Signal Transducing, DNA Primers, Male Phenotype, Tumor Suppressor Proteins, Macrocephaly, Genetic Diseases, X-Linked, Anatomy, medicine.disease, Phenotype, Osteochondrodysplasia, Megalencephaly, Skull, medicine.anatomical_structure, 570 Life sciences, biology, Female, medicine.symptom
وصف الملف: Holman_et_al,_the_male_phnotype.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4104ee33ed594252ed007fec4847f944Test
https://www.zora.uzh.ch/id/eprint/57502Test/