المؤلفون: Shang, Linshan, Henderson, Lindsay B, Cho, Megan T, Petrey, Donald S, Fong, Chin-To, Haude, Katrina M, Shur, Natasha, Lundberg, Julie, Hauser, Natalie, Carmichael, Jason, Innis, Jeffrey, Schuette, Jane, Wu, Yvonne W, Asaikar, Shailesh, Pearson, Margaret, Folk, Leandra, Retterer, Kyle, Monaghan, Kristin G, Chung, Wendy K

المصدر: neurogenetics. 17(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Bioinformatics and Computational Biology, Genetics, Biological Sciences, Intellectual and Developmental Disabilities (IDD), Pediatric, Autism, Brain Disorders, Mental Health, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, 1.1 Normal biological development and functioning, Underpinning research, Adolescent, Autism Spectrum Disorder, Autistic Disorder, Child, Child, Preschool, DNA Mutational Analysis, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Infant, Intellectual Disability, Male, Megalencephaly, Muscle Hypotonia, Mutation, Missense, Polymorphism, Single Nucleotide, Protein Phosphatase 2, PPP2R5D, Intellectual disabilities, Whole-exome sequencing, De novo mutations, Protein phosphatase, Autism spectrum disorder, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0p24024j

المؤلفون: Blok, Lot Snijders, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot RF, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T, Hoischen, Alexander, Vissers, Lisenka ELM, Koemans, Tom S, Wissink-Lindhout, Willemijn, Eichler, Evan E, Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje WM, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L, Van Dijck, Anke, Innes, A Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J, Henderson, Alex, Lynch, Sally A, Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Study, the DDD, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen LI, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L, Pediaditakis, Igor, Haas, Stefan A, Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G, Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C, Stein, Quinn, Strauss, Kevin A, Brigatti, Karlla W, Keating, Katherine, Burton, Barbara K, Kim, Katherine H, Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D, Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M, van Roozendaal, Kees, Brunner, Han, Chung, Wendy K, Kooy, R Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G, Katsanis, Nicholas, Kleefstra, Tjitske

المصدر: American Journal of Human Genetics. 97(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Intellectual and Developmental Disabilities (IDD), Human Genome, Clinical Research, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Amino Acid Substitution, Animals, Base Sequence, DEAD-box RNA Helicases, Embryo, Nonmammalian, Exome, Female, Gene Dosage, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Missense, Phenotype, Sequence Analysis, DNA, Sex Characteristics, Wnt Signaling Pathway, Zebrafish, DDD Study, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7z24v4hn

المؤلفون: Wittlieb-Weber, Carol A., Haude, Katrina M., Fong, Chin-To, Vinocur, Jeffrey M.

المصدر: HeartRhythm Case Reports ; volume 2, issue 1, page 32-35 ; ISSN 2214-0271

الاتاحة: http://dx.doi.org/10.1016/j.hrcr.2015.08.013
https://api.elsevier.com/content/article/PII:S2214027115001888?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214027115001888?httpAccept=text/plain

المؤلفون: Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R F, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E L M, Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, Van Bon, Bregje W M, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, Van gassen, Koen L I, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., Van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske

المساهمون: Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek

مصطلحات موضوعية: Genetics, Genetics(clinical), Case Reports, Journal Article, Research Support, N.I.H., Extramural, Non-U.S. Gov't

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/331678

الاتاحة: https://dspace.library.uu.nl/handle/1874/331678

المؤلفون: Shang, Linshan, Henderson, Lindsay B., Cho, Megan T., Petrey, Donald S., Fong, Chin-To, Haude, Katrina M., Shur, Natasha, Lundberg, Julie, Hauser, Natalie, Carmichael, Jason, Innis, Jeffrey, Schuette, Jane, Wu, Yvonne W., Asaikar, Shailesh, Pearson, Margaret, Folk, Leandra, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.

المساهمون: National Institutes of Health

المصدر: neurogenetics ; volume 17, issue 1, page 43-49 ; ISSN 1364-6745 1364-6753

الاتاحة: http://dx.doi.org/10.1007/s10048-015-0466-9
http://link.springer.com/content/pdf/10.1007/s10048-015-0466-9.pdf
http://link.springer.com/article/10.1007/s10048-015-0466-9/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10048-015-0466-9

المؤلفون: Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R F, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E L M, Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, Van Bon, Bregje W M, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, Van gassen, Koen L I, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., Van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske

URL: https://doi.org/10.1016/j.ajhg.2015.07.004
http://hdl.handle.net/1874/331678
http://www.scopus.com/inward/record.url?scp=84938978665&partnerID=8YFLogxK
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