المؤلفون: Lauren K. White, T. Blaine Crowley, Brenda Finucane, Emily J. McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M. Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E. Gur, Anne M. Maillard, Kirsten A. Donald, Anne S. Bassett, Ann Swillen, Donna M. McDonald-McGinn

المصدر: Genes; Volume 14; Issue 1; Pages: 169

مصطلحات موضوعية: copy number variations (CNVs), Rare Diseases, Attitude, DNA Copy Number Variations, 22q11.2 deletion syndrome, Surveys and Questionnaires, Emotions, Genetics, Humans, neurodevelopmental psychiatric disorders (NPDs), Genetics (clinical)

وصف الملف: Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f624037798463c1c598fa73ee8d386cTest
https://doi.org/10.3390/genes14010169Test

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

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

المؤلفون: Pradeep C, Vasudevan, Sixto, Garcia-Minaur, Maria Pilar, Botella, Antonio, Perez-Aytes, Nora L, Shannon, Oliver W J, Quarrell

المصدر: Clinical dysmorphology. 14(3)

مصطلحات موضوعية: Male, Child, Preschool, Face, Infant, Newborn, Microcephaly, Humans, Abnormalities, Multiple, Retinal Dysplasia, Lymphedema, Syndrome, Child, Genes, Dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::65f1ae647e7de91c801fc4e76fcbd46eTest
https://pubmed.ncbi.nlm.nih.gov/15930898Test