المؤلفون: Kaylee Park, Megan Sikes, Tara Wenger

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100380- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423003801; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/ee585d80ed7d4bb4b5a5aa5d9775e872

المؤلفون: Kaylee Park, Georg Seelig, Robert J. Hopkin, Steven Lisgo, Joseph G. Gleeson, Yuri A. Zarate, Charles E. Schwartz, Stephen R. Braddock, Katherine Wusik, Zachary Thomson, Deborah A. Nickerson, Charles M. Roco, Susan Sell, Jordan Zeiger, Chi V. Cheng, Matthew Hirano, Julie R. Jones, Roger L. Ladda, Gisele E. Ishak, Amy Goldstein, David B. Everman, Dan Doherty, Sarah Collins, William B. Dobyns, Lynne M. Overmann, Ian A. Glass, Alexander B. Rosenberg, Megan T. Cho, Kathleen A. Leppig, Kimberly A. Aldinger, Brian H.Y. Chung, Andrew E. Timms, Kathleen J. Millen, Fatima Abidi, Michael J. Bamshad, Cynthia J. Curry, Fowzan S. Alkuraya, A. James Barkovich, James T. Bennett, Parthiv Haldipur, Leslie G. Biesecker, Ian D. Krantz, Ghayda M. Mirzaa, Dianne Gerrelli, Barbara McGillivray, Sara S. Cathey

المصدر: The American Journal of Human Genetics. 105:606-615

مصطلحات موضوعية: Male, 0301 basic medicine, Cerebellum, PDGFRB, Bioinformatics, Article, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Pregnancy, Intellectual disability, Genetics, Humans, Medicine, Exome, Genetics (clinical), Exome sequencing, business.industry, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Etiology, Autism, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282ca27ddfdcb3de1615e0de8cf3c41d
https://doi.org/10.1016/j.ajhg.2019.07.019

المؤلفون: Anna Lehman, Melinda Zombor, Mark O'Driscoll, Ute Moog, Natalia Gomez-Ospina, Valerio Conti, Adeline Jacquinet, Margot I. Van Allen, Sofia Ygberg, Andrew E. Timms, Renzo Guerrini, Jonathan A. Bernstein, Ghayda M. Mirzaa, Diana Alcantara, Fiona Stewart, Sarju G. Mehta, Oana Caluseriu, Sarah Collins, Ronit Mesterman, John M. Graham, Robert F. Hevner, Kaylee Park, William B. Dobyns, Enrico Alfei, László Sztriha, Gill Bejerano, Laura Baker, Anand Saggar, Chiara Pantaleoni, Aaron M. Wenger, Karen W. Gripp, Chi Cheng, Harendra Guturu

مصطلحات موضوعية: 0301 basic medicine, Male, Hemimegalencephaly, Pathology, medicine.medical_specialty, RB155.5, Developmental Disabilities, RB024, Biology, Phosphatidylinositols, Transfection, akt3, RB127, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Polymicrogyria, Humans, Immunoprecipitation, Megalencephaly, Kinase activity, Child, Genetic Association Studies, Genetics, RB151, Macrocephaly, Brain, RB057, Original Articles, Cortical dysplasia, medicine.disease, Phenotype, Magnetic Resonance Imaging, 3. Good health, 030104 developmental biology, Heterotopia (medicine), HEK293 Cells, Mutation, Mutagenesis, Site-Directed, Female, Neurology (clinical), medicine.symptom, Proto-Oncogene Proteins c-akt, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0402726b948517f1efa27f5987843845

المؤلفون: Russell P. Saneto, Savannah Michels, Katie Golden-Grant, Kaylee Park, Kimberly Foss, Jonathan Lopez, Ghayda M. Mirzaa

المصدر: American journal of medical genetics. Part A. 173(12)

مصطلحات موضوعية: 0301 basic medicine, Male, Kinesins, Biology, medicine.disease_cause, Bioinformatics, Article, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, Neuroimaging, Intellectual Disability, Intellectual disability, Genetics, medicine, Polymicrogyria, Humans, Genetics (clinical), Language, Cerebral Cortex, Mutation, Pachygyria, High-Throughput Nucleotide Sequencing, Infant, Cortical dysplasia, medicine.disease, Malformations of Cortical Development, 030104 developmental biology, Neurodevelopmental Disorders, Female, Lissencephaly, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8849ed5c563a978b00456846ceeb7ae7
https://pubmed.ncbi.nlm.nih.gov/29048727

المؤلفون: Alex R. Paciorkowski, Ghayda M. Mirzaa, Laurie E. Seltzer, Emily Tuttle, Kaylee Park

المصدر: American journal of medical genetics. Part A. 173(7)

مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Pediatrics, medicine.medical_specialty, Genetic heterogeneity, business.industry, Encephalopathy, medicine.disease, 03 medical and health sciences, Epilepsy, 030104 developmental biology, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Dubowitz syndrome, Global developmental delay, business, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeec9a7e15a654ff32b45ed75d0db811
https://pubmed.ncbi.nlm.nih.gov/28464511

المؤلفون: Lim Jiin Yin, Beth Martin, Mark J. Stephan, Mariana Aracena, Cynthia J. Curry, Inge Krägeloh-Mann, Karen W. Gripp, Koenraad Devriendt, Michael Painter, Livia Garavelli, William B. Dobyns, Rachel Straussberg, Agustina Lanoel, Marie-Claude Addor, Margaret L. McKinnon, Luigi Boccuto, John Graham, Katrina Tatton-Brown, James D. Reggin, Jay Shendure, Colin C. Pritchard, Charles E. Schwartz, Mary Ella M Pierpont, Ian A. Glass, Fiona Stewart, Sulagna C. Saitta, Angeline Hwei Meeng Lai, Evan A. Boyle, Erin Torti, Anne Goriely, Michael T. Gabbett, Melanie Napier, Nicole Martin, Melissa T. Carter, Lisa Worgan, Renzo Guerrini, Katta M. Girisha, Ghayda M. Mirzaa, Chitra Prasad, Rachael Bradshaw, Leah W. Burke, Martin Kircher, Hulya Kayserilli, Andrew E. Timms, Jane Juusola, Karen D. Tsuchiya, Catherine E. Keegan, Robert L. Conway, David Chitayat, Kaylee Park, Hilde Van Esch, Aditi Shah Parikh, Maria R. Cordisco, Valerio Conti, Sondhya Ghedia, Raoul C.M. Hennekam, Sarah Collins, Bridget C. O’Connor, Stephen R. Braddock, Carissa Olds

المساهمون: ANS - Complex Trait Genetics, APH - Amsterdam Public Health, Paediatric Genetics

المصدر: JCI insight, vol. 1, no. 9, pp. 18p.
JCI insight, 1(9). The American Society for Clinical Investigation
Paediatrics Publications
JCI Insight

مصطلحات موضوعية: 0301 basic medicine, Genetics, Sanger sequencing, Somatic cell, Class I Phosphatidylinositol 3-Kinases/genetics, Female, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Malformations of Cortical Development/genetics, Mosaicism, Mutation, Phenotype, Tissue Distribution, Vascular Malformations/genetics, General Medicine, Biology, Molecular biology, 3. Good health, Variable Expression, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, Targeted ngs, symbols, Amplicon sequencing, Tissue distribution, Class I Phosphatidylinositol 3-Kinases, neoplasms, Research Article

وصف الملف: application/pdf; Print

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e277962199864ba9a67d6d7a87cffb7
https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29