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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: Anya Levinson, Jessica Van Ziffle, M Dwight Chen, Jacob Pfeil, Inge Behroozfard, E. Alejandro Sweet-Cordero, Charles Zaloudek, Avanthi Tayi Shah, Stanley G. Leung, Elliot Stieglitz, Arjun A. Rao, Benjamin Laguna, Nicholas R. Ladwig, Henry J Martell, Sofie R. Salama, Alex G. Lee, Marcus R. Breese, Lee-may Chen
المصدر: JCO Precision Oncology
مصطلحات موضوعية: APOBEC, Cancer Research, medicine.anatomical_structure, Oncology, business.industry, Cancer research, Medicine, Case Reports, Clear-cell adenocarcinoma, business, medicine.disease, Cervix, Complete response
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fda6e5cb23a53fecc0fc172016633116Test
https://doi.org/10.1200/po.20.00132Test -
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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: 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: 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: 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: 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: Billie R. Lianoglou, Pui-Yan Kwok, Patrick Devine, Barbara A. Koenig, Jessica Van Ziffle, Teresa N. Sparks, Mary E. Norton, Neil Risch, Sarah Downum, Amanda Faubel, Anne Slavotinek
المصدر: American Journal of Obstetrics and Gynecology. 224:S635-S636
مصطلحات موضوعية: business.industry, Yield (finance), Obstetrics and Gynecology, Medicine, Prenatal diagnosis, Computational biology, business, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c639163a5d0595421c4cb3e3ba0bfcebTest
https://doi.org/10.1016/j.ajog.2020.12.1052Test