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المؤلفون: Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W. Patrick Devine, Sara L. Ackerman, Barbara A Koenig, Pui-Yan Kwok, Mary E. Norton, Anne Slavotinek, Neil Risch
المصدر: medRxiv
مصطلحات موضوعية: Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a66af567dc0689e1d9c05a82b7bdbb3cTest
https://europepmc.org/articles/PMC10246153Test/ -
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المؤلفون: Barbara A. Koenig, Tiffany Yip, Jessica Van Ziffle, Mary E. Norton, Sarah Downum, Billie R. Lianoglou, Flavia Chen, Shannon Rego, Anne Slavotinek, Kate Swanson, Sachi Patel, Teresa N. Sparks
المصدر: Prenatal diagnosis, vol 42, iss 6
Prenat Diagnمصطلحات موضوعية: 0301 basic medicine, Proband, Parents, Pediatrics, medicine.medical_specialty, Clinical Sciences, Prenatal diagnosis, 030105 genetics & heredity, Article, Cohort Studies, Paediatrics and Reproductive Medicine, 03 medical and health sciences, 0302 clinical medicine, Primary outcome, Pregnancy, Clinical Research, Secondary analysis, Prenatal Diagnosis, Exome Sequencing, medicine, Humans, Family, Exome, Child, Obstetrics & Reproductive Medicine, Genetics (clinical), Exome sequencing, Genetic testing, Pediatric, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Obstetrics and Gynecology, Perinatal Period - Conditions Originating in Perinatal Period, Preference, Cohort, Female, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dcb922a4e254d807341bd8867d5a776Test
https://escholarship.org/uc/item/89h179r4Test -
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المؤلفون: Stephanie Hilz, Joseph F. Costello, Rong Li, Joanna J. Phillips, James P. Grenert, Tarik Tihan, Arie Perry, Megan K. Dishop, Elizabeth Alva, Carol S. Bruggers, Biswarathan Ramani, Peter P. Sun, Nalin Gupta, Julieann C. Lee, Shipra Garg, Cynthia Wetmore, Cathryn R. Cadwell, Gregory Moes, Corey Raffel, Patrick Devine, Mitchel S. Berger, Nancy Ann Oberheim Bush, Edward F. Chang, Courtney Onodera, Emily A. Sloan, Steve Braunstein, Jeffrey W. Hofmann, Cassie Kline, Anu Banerjee, David A. Solomon, Jessica Van Ziffle, Mouied Alashari, Melike Pekmezci, Rohit Gupta, John Y.H. Kim, Alyssa Reddy, Andrew W. Bollen, Susan M. Chang
المصدر: Acta neuropathologica, vol 139, iss 5
Acta Neuropatholمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Clinical Sciences, Article, Pathology and Forensic Medicine, Li-Fraumeni Syndrome, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, Theology, Child, Preschool, Germ-Line Mutation, Neurology & Neurosurgery, Philosophy, Neurosciences, Glioma, medicine.disease, 030104 developmental biology, Li–Fraumeni syndrome, Child, Preschool, Female, Neurology (clinical), Tumor Suppressor Protein p53, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f423d386df65743cc259399840c239aTest
https://doi.org/10.1007/s00401-020-02144-8Test -
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المؤلفون: Patrick Devine, Yi Li, John Y.H. Kim, Lee A. Tan, David Samuel, Susan M. Chang, Sabine Mueller, David Scharnhorst, Cassie Kline, Joseph Torkildson, Peter P. Sun, Cynthia Fata, Arie Perry, Steve Braunstein, Gregory Moes, Corey Raffel, Jennifer Clarke, Anu Banerjee, Carl Koschmann, Courtney Onodera, Emily A. Sloan, Jessica Van Ziffle, David R. Raleigh, Julieann C. Lee, Tabitha Cooney, Jennie Taylor, Andrew W. Bollen, Hua Guo, Soonmee Cha, Robin A. Buerki, Vinil Shah, Philip V. Theodosopoulos, David A. Solomon, Alyssa Reddy, Michael W. McDermott, Nicholas Butowski, Dean Chou, James P. Grenert, Praveen V. Mummaneni, Joanna J. Phillips, Nancy Ann Oberheim Bush, Tarik Tihan, Nalin Gupta, Melike Pekmezci, Mitchel S. Berger
المصدر: Acta neuropathologica, vol 138, iss 5
Acta Neuropatholمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Clinical Sciences, Article, Pathology and Forensic Medicine, Histones, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Humans, Spinal Cord Neoplasms, Theology, Child, Preschool, Aged, Neurology & Neurosurgery, Brain Neoplasms, Extramural, Philosophy, Neurosciences, Glioma, Middle Aged, 030104 developmental biology, Spinal Cord, Non canonical, Child, Preschool, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f450fd991d4c733880328ada22b3c5fcTest
https://doi.org/10.1007/s00401-019-02072-2Test -
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المؤلفون: Jessica Van Ziffle, W. Patrick Devine, Mary E. Norton, Teresa N. Sparks, Billie R. Lianoglou, Ugur Hodoglugil
المصدر: Am J Obstet Gynecol
American journal of obstetrics and gynecology, vol 226, iss 1مصطلحات موضوعية: Adult, Hydrops Fetalis, Prenatal diagnosis, Gestational Age, RASopathy, Article, Paediatrics and Reproductive Medicine, Cohort Studies, Exon, Rare Diseases, Clinical Research, Predictive Value of Tests, Pregnancy, Hydrops fetalis, Prenatal Diagnosis, Exome Sequencing, Genetics, medicine, 2.1 Biological and endogenous factors, Humans, Genetic Testing, Aetiology, Obstetrics & Reproductive Medicine, Exome sequencing, Pediatric, screening and diagnosis, business.industry, Genetic heterogeneity, Human Genome, Obstetrics and Gynecology, Cystic hygroma, High-Throughput Nucleotide Sequencing, targeted gene panels, medicine.disease, 4.1 Discovery and preclinical testing of markers and technologies, nonimmune hydrops, Detection, Good Health and Well Being, Inborn error of metabolism, Female, business, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76441aa0703e585613b8810926154042Test
https://europepmc.org/articles/PMC8748274Test/ -
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المؤلفون: Ilina D. Pluym, Jessica Van Ziffle, Nancy T. Field, Stephen Sanders, Teresa N. Sparks, Jennifer Duffy, Louise C. Laurent, Tippi C. MacKenzie, Mary E. Norton, Kerry Holliman, Nina M. Boe, Sarah Downum, Cherry Uy, Rebecca R. Adami, Billie R. Lianoglou, Ugur Hodoglugil, Aisling Murphy, Sachi Patel, Jennifer Jolley, Anne Slavotinek, Amanda Faubel, Patrick Devine, Maternal-Fetal Precision Med
المصدر: Obstetric Anesthesia Digest, vol 41, iss 2
Obstetrical & Gynecological Survey, vol 76, iss 3
OBSTETRICAL & GYNECOLOGICAL SURVEY, vol 76, iss 3
N Engl J Medمصطلحات موضوعية: medicine.medical_specialty, Hydrops Fetalis, Prenatal diagnosis, Reproductive health and childbirth, 030204 cardiovascular system & hematology, Bioinformatics, Low Birth Weight and Health of the Newborn, Article, Paediatrics and Reproductive Medicine, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Preterm, Clinical Research, Prenatal Diagnosis, Hydrops fetalis, Exome Sequencing, Genetic variation, Infant Mortality, medicine, Genetics, Humans, Exome, 030212 general & internal medicine, Genetic Testing, Theology, Obstetrics & Reproductive Medicine, Exome sequencing, Gynecology, Pediatric, Fetus, business.industry, Human Genome, Genetic Variation, Obstetrics and Gynecology, General Medicine, Perinatal Period - Conditions Originating in Perinatal Period, Prognosis, medicine.disease, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Female, Genetic diagnosis, business, Biotechnology, 4.2 Evaluation of markers and technologies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b4739398cd17ffcd6324f32b61db236Test
https://escholarship.org/uc/item/0kq5q2qxTest -
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المؤلفون: Andreas von Deimling, Jessica Van Ziffle, Soo-Jin Cho, Hua Guo, Arie Perry, Christian Koelsche, Brian J. Williams, Sean P. Ferris, Jeffrey W. Hofmann, Andrew E. Horvai, James P. Grenert, David T.W. Jones, Andrey Korshunov, Adriana Florez, David A. Solomon, Courtney Onodera, Emily A. Sloan, Joseph Torkildson, Javier Villanueva-Meyer, Eyas M. Hattab, Stefan M. Pfister, Julieann C. Lee
المصدر: Acta Neuropathologica. 137:521-525
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Extramural, Electronic Supplementary Material, medicine.disease, Article, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Eosinophilic, Mutation (genetic algorithm), Medicine, Missense mutation, Neurology (clinical), Neurofibromatosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d2d51cd18595032824a1691b0db09fTest
https://doi.org/10.1007/s00401-019-01960-xTest -
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المؤلفون: Courtney Onodera, Iwei Yeh, Boris C. Bastian, Joseph T. Rabban, Jessica Van Ziffle, Karuna Garg, David A. Solomon, Charles Zaloudek, James P. Grenert, Meredith Stevers
المصدر: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, vol 32, iss 1
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Incمصطلحات موضوعية: Mesothelioma, Male, 0301 basic medicine, adenomatoid tumor, Pathology, tumor necrosis factor alpha (TNFα), Medical and Health Sciences, 0302 clinical medicine, CDKN2A, 80 and over, 2.1 Biological and endogenous factors, cdc42 GTP-Binding Protein, Peritoneal Neoplasms, Cancer, Mesothelial Neoplasm, Aged, 80 and over, mesothelial cells, BAP1, CDC42, Middle Aged, respiratory system, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins, 3. Good health, medicine.anatomical_structure, 030220 oncology & carcinogenesis, malignant mesothelioma, Immunohistochemistry, Female, TRAF7, medicine.medical_specialty, Adenomatoid tumor, and over, Biology, Article, Pathology and Forensic Medicine, 03 medical and health sciences, Rare Diseases, Peritoneum, Clinical Research, SETD2, Genetics, medicine, Humans, neoplasms, well-differentiated papillary mesothelioma (WDPM), Aged, Rho family GTPase, medicine.disease, respiratory tract diseases, 030104 developmental biology, L1CAM, Mutation, nuclear factor-kappa B (NF-kB)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c30ed1cc610629c47e76fe16db733c2Test
https://doi.org/10.1038/s41379-018-0127-2Test -
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المؤلفون: Ritu Roy, Jessica Van Ziffle, David A. Solomon, Michele M. Bloomer, Nicola J. Cadenas, Armin R. Afshar, James P. Grenert, Melike Pekmezci, Meredith Stevers, Courtney Onodera, Boris C. Bastian, W. Patrick Devine, Anuradha Banerjee, Bertil Damato, Adam B. Olshen
المصدر: Ophthalmology, vol 127, iss 6
Ophthalmologyمصطلحات موضوعية: Male, Tissue Fixation, Buccal swab, DNA Mutational Analysis, medicine.disease_cause, Ophthalmology & Optometry, Germline, Cohort Studies, 0302 clinical medicine, Child, Cancer, Pediatric, 0303 health sciences, Mutation, Paraffin Embedding, Retinoblastoma, High-Throughput Nucleotide Sequencing, DNA, Neoplasm, Retinoblastoma Binding Proteins, Child, Preschool, Public Health and Health Services, Female, medicine.symptom, Pediatric Research Initiative, Pediatric Cancer, Retinal Neoplasms, Ubiquitin-Protein Ligases, Clinical Sciences, Article, Eye Enucleation, 03 medical and health sciences, Germline mutation, Rare Diseases, Clinical Research, Opthalmology and Optometry, medicine, Genetics, Humans, Gene Silencing, Preschool, Anaplasia, ATRX, Germ-Line Mutation, 030304 developmental biology, business.industry, Neurosciences, Infant, DNA, medicine.disease, eye diseases, Ophthalmology, 030221 ophthalmology & optometry, Cancer research, Neoplasm, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3c16724cad14b3637307e3c1d08c6d9Test
https://escholarship.org/uc/item/69x937mnTest -
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المؤلفون: Sariah Allen, Cassie Kline, Carole Brathwaite, Mouied Alashari, Gourish Mondal, Ajay Ravindranathan, Pamela Doo, Brent A. Orr, David A. Solomon, Patrick Devine, Javier Villanueva-Meyer, Joanna J. Phillips, Carol S. Bruggers, Alberto Broniscer, David Samuel, Ossama M. Maher, Jessica Van Ziffle, Alyssa Reddy, Tarik Tihan, Rong Li, Samuel H. Cheshier, Arie Perry, Nicholas S Whipple, Laura K. Metrock, Matthew Hall, James P. Grenert, Lee-Way Jin, Anu Banerjee, Andrew W. Bollen, Corey Raffel, Courtney Onodera, Julieann C. Lee, Quynh T. Tran, Melike Pekmezci, Mitchel S. Berger, Reuben Antony, Jairo Barreto, Minesh P. Mehta, Ziad Khatib, Rohit Gupta, John T. Lucas, Nalin Gupta
المصدر: Acta Neuropathol
Acta neuropathologica, vol 139, iss 6مصطلحات موضوعية: 0301 basic medicine, Male, Lung Neoplasms, Pediatric cancer, Tyrosine kinase inhibitor, medicine.disease_cause, Epigenesis, Genetic, Exon, 0302 clinical medicine, Carcinoma, Non-Small-Cell Lung, 2.1 Biological and endogenous factors, Osimertinib, Aetiology, Non-Small-Cell Lung, Child, Cancer, Pediatric, Mutation, Brain Neoplasms, Histone H3, Bithalamic glioma, Diffuse midline glioma, Glioma, ErbB Receptors, Erlotinib, Child, Preschool, Female, Tyrosine kinase, Adolescent, EGFR, Molecular neuropathology, Clinical Sciences, Antineoplastic Agents, Biology, Afatinib, Article, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Rare Diseases, Genetic, Trametinib, Genetics, medicine, Humans, Epigenetics, Preschool, Protein Kinase Inhibitors, Neurology & Neurosurgery, Carcinoma, Human Genome, Neurosciences, medicine.disease, Brain Disorders, Brain Cancer, Orphan Drug, 030104 developmental biology, Protein kinase domain, Cancer research, Neurology (clinical), 030217 neurology & neurosurgery, Epigenesis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e08e7c3b224d9f0dfed7d7aa0d94b0feTest
https://pubmed.ncbi.nlm.nih.gov/32303840Test