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1
المؤلفون: Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton
المصدر: NPJ genomic medicine, vol 8, iss 1
مصطلحات موضوعية: Pediatric, Clinical Research, Human Genome, Genetics, Perinatal Period - Conditions Originating in Perinatal Period, Molecular Biology, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e11069963a4d28b77e9a4eea3e4975Test
https://escholarship.org/uc/item/2gp2s68bTest -
2
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: Divya Natesan, Li Zhang, Henry J. Martell, Tanya Jindal, Patrick Devine, Bradley Stohr, Carlos Espinosa-Mendez, James Grenert, Jessica Van Ziffle, Nancy Joseph, Sarah Umetsu, Courtney Onodera, Michelle Turski, Emily Chan, Arpita Desai, Rahul Aggarwal, Anthony Wong, Sima Porten, Jonathan Chou, Terence Friedlander, Lawrence Fong, Eric J. Small, Alejandro Sweet-Cordero, Vadim S. Koshkin
المصدر: Frontiers in Oncology. 12
مصطلحات موضوعية: Cancer Research, tumor mutational burden, Oncology and Carcinogenesis, hypermutated, biomarkers, immune checkpoint inhibitor, APOBEC mutational signature, Rare Diseases, Good Health and Well Being, urothelial cancer, Oncology, Clinical Research, Genetics, bladder cancer, next-generation sequencing, Cancer
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca6d5c5fc5ec7a019488efd768a82e79Test
https://doi.org/10.3389/fonc.2022.816706Test -
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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: 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: William H. Yong, David A. Solomon, Arie Perry, Iwei Yeh, Courtney Onodera, Iman H. Hewedi, Andrew W. Bollen, Yu Hsiu Lin, M. Beatriz S. Lopes, Eric Talevich, Matthew P. Jacobson, Nicholas Butowski, Gourish Mondal, Benjamin Goode, Bette K. Kleinschmidt-DeMasters, Daniel J. Brat, Jessica Van Ziffle, Boris C. Bastian, Diego Garrido Ruiz, Matija Snuderl, Joanna J. Phillips, Tarik Tihan, Nancy M. Joseph, Fausto J. Rodriguez, Michael Hyun, Marc K. Rosenblum, David N. Louis, Arun P. Wiita, James P. Grenert
المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-8 (2018)
Nature communications, vol 9, iss 1
Nature Communications, vol 9, iss 1
Nature Communicationsمصطلحات موضوعية: 0301 basic medicine, Male, General Physics and Astronomy, medicine.disease_cause, 0302 clinical medicine, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Phosphorylation, lcsh:Science, Extracellular Signal-Regulated MAP Kinases, Cancer, Mutation, Multidisciplinary, Lamina terminalis, Glioma, Middle Aged, 3. Good health, medicine.anatomical_structure, Female, Adult, Protein Kinase C-alpha, Science, Mutation, Missense, Brain tumor, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Rare Diseases, Protein Domains, Clinical Research, Genetics, medicine, Humans, Protein kinase C, Third Ventricle, Aged, Third ventricle, Oncogene, Human Genome, Neurosciences, General Chemistry, medicine.disease, Brain Disorders, Brain Cancer, 030104 developmental biology, Protein kinase domain, Cancer research, lcsh:Q, Missense, Cerebral Ventricle Neoplasms, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a58554b151e1c6f2901a5a43a96e3f03Test
https://doaj.org/article/8ff58d0463294f3b9772e2541cb2ebc5Test -
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المؤلفون: Sanaa Tahiri, Amir Ali Talasaz, Elizabeth Dito, R. Kate Kelley, Anna Ong, W. Michael Korn, Andrew H. Ko, Ryan Courtin, Eric A. Collisson, Tanios Bekaii-Saab, Nancy M. Joseph, Regina Linetskaya, Jessica Van Ziffle, Olga M. Mirzoeva, Margaret A. Tempero, Peter Kuhn, Alan P. Venook, Sharvina Ziyeh
المصدر: Clinical cancer research : an official journal of the American Association for Cancer Research, vol 22, iss 1
مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, Pathology, medicine.medical_treatment, Drug Resistance, Kaplan-Meier Estimate, Neoplastic Cells, 0302 clinical medicine, Antineoplastic Combined Chemotherapy Protocols, 80 and over, Circulating, Clinical endpoint, Molecular Targeted Therapy, Cancer, EGFR inhibitors, Aged, 80 and over, DNA, Neoplasm, Middle Aged, Neoplastic Cells, Circulating, 5.1 Pharmaceuticals, 6.1 Pharmaceuticals, 030220 oncology & carcinogenesis, Retreatment, Adenocarcinoma, Female, Erlotinib, Development of treatments and therapeutic interventions, medicine.drug, Adult, medicine.medical_specialty, Clinical Trials and Supportive Activities, Oncology and Carcinogenesis, Article, Erlotinib Hydrochloride, Pancreatic Cancer, 03 medical and health sciences, Rare Diseases, Clinical Research, Pancreatic cancer, Internal medicine, medicine, Humans, Oncology & Carcinogenesis, Neoplasm Staging, Aged, Chemotherapy, business.industry, Evaluation of treatments and therapeutic interventions, DNA, medicine.disease, Pancreatic Neoplasms, Clinical trial, 030104 developmental biology, Drug Resistance, Neoplasm, Selumetinib, Neoplasm, Benzimidazoles, Digestive Diseases, business, Biomarkers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fdb6a0a11a33489f81fa6895fc40168Test
https://doi.org/10.1158/1078-0432.ccr-15-0979Test