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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: Nancy K. Hills, Joseph T. Rabban, Karuna Garg, Nicholas R. Ladwig, Amy Joehlin-Price, Jessica Van Ziffle
المصدر: American Journal of Surgical Pathology. 45:421-429
مصطلحات موضوعية: Adult, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, medicine.medical_treatment, DNA Mutational Analysis, Uterus, Context (language use), MLH1, DNA Mismatch Repair, Pathology and Forensic Medicine, PAX8 Transcription Factor, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, Biomarkers, Tumor, medicine, Carcinoma, Atypia, PMS2, Humans, Poly-ADP-Ribose Binding Proteins, beta Catenin, Aged, Aged, 80 and over, Hysterectomy, business.industry, DNA Polymerase II, Middle Aged, medicine.disease, Immunohistochemistry, Endometrial Neoplasms, DNA Repair Enzymes, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, Female, Surgery, Neoplasm Grading, Tumor Suppressor Protein p53, Anatomy, business, Carcinoma, Endometrioid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09a40cca6d8277d13edcf6bb8ca74808Test
https://doi.org/10.1097/pas.0000000000001598Test -
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المؤلفون: Anne Slavotinek, Jessica Van Ziffle, Orit A. Glen, Pierre-Marie Martin, Tiffany Yip, Kathleen Barrus, Shannon Rego
المصدر: American Journal of Medical Genetics Part A. 182:2959-2963
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Macrocephaly, Splenium, 030105 genetics & heredity, Corpus callosum, Hypotonia, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, NFIB, Genetics, medicine, medicine.symptom, Haploinsufficiency, business, Cavum septum pellucidum, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::53af59a4c9d2170be3ac88d8eeb039c6Test
https://doi.org/10.1002/ajmg.a.61852Test -
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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: Joseph T. Shieh, Pierre-Marie Martin, Norah Alsaleh, Daniah Beleford, Zuhair Rahbeeni, Shannon Rego, Fowzan S. Alkuraya, Jessica Van Ziffle, Alyssa Huang, Aya Abu-El-Haija, Anne Slavotinek, Bryce A. Mendelsohn, Neil Risch, Gina Capodanno
المصدر: American Journal of Medical Genetics Part A. 182:513-520
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Microcephaly, business.industry, Trichothiodystrophy, 030105 genetics & heredity, medicine.disease, Short stature, Dermatology, Hypogammaglobulinemia, RNF113A, 03 medical and health sciences, 030104 developmental biology, Hypergonadotropic hypogonadism, Failure to thrive, Genetics, medicine, medicine.symptom, business, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::85683d2e04a6c1090f0b0a094508e047Test
https://doi.org/10.1002/ajmg.a.61450Test -
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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: 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: Jordyn Silverstein, Katherine Van Loon, Samantha Maisel, Thomas A. Hope, Jessica Van Ziffle, Dianna Ng, Susan J. Fisher, Chloe E. Atreya, Wesley Allen Kidder
المصدر: Endocrine Connections
Endocrine Connections, vol 8, iss 8
Endocrine Connections, Vol 8, Iss 8, Pp 1149-1158 (2019)مصطلحات موضوعية: Oncology, medicine.medical_specialty, medicine.drug_class, Colorectal cancer, Endocrinology, Diabetes and Metabolism, Estrogen receptor, Rectum, colorectal cancer, progesterone, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Internal Medicine, medicine, estrogen, 030212 general & internal medicine, Pregnancy, lcsh:RC648-665, business.industry, Research, Cancer, Sigmoid colon, medicine.disease, digestive system diseases, medicine.anatomical_structure, Estrogen, 030220 oncology & carcinogenesis, Immunohistochemistry, pregnancy, business, molecular features
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::620d64fdff918d40f089f1b7ab5e3de7Test
http://europepmc.org/articles/PMC6686950Test -
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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: Annemieke van Zante, Christopher N. Otis, Joaquin J. Garcia, Jessica Van Ziffle, Yunn-Yi Chen, Gregory R. Bean, David A. Solomon, Gregor Krings, Sandra Camelo-Piragua
المصدر: Histopathology. 74:463-473
مصطلحات موضوعية: 0301 basic medicine, Histology, Oncogene Proteins, Fusion, Breast Neoplasms, Biology, medicine.disease_cause, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Immunophenotyping, SETD2, Mucoepidermoid carcinoma, Progesterone receptor, medicine, Humans, skin and connective tissue diseases, Mutation, Salivary gland, Nuclear Proteins, General Medicine, Middle Aged, biochemical phenomena, metabolism, and nutrition, medicine.disease, DNA-Binding Proteins, body regions, 030104 developmental biology, medicine.anatomical_structure, Fusion transcript, 030220 oncology & carcinogenesis, Trans-Activators, Cancer research, Carcinoma, Mucoepidermoid, Female, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f97758131af7a21d4af79ba05b456e26Test
https://doi.org/10.1111/his.13779Test