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المؤلفون: Vikas Pejaver, Alicia B. Byrne, Bing-Jian Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell-Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, Ahmad A. Tayoun, Jonathan S. Berg, Garry R. Cutting, Sian Ellard, Peter Kang, Izabela Karbassi, Jessica Mester, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Scott Topper
المصدر: The American Journal of Human Genetics. 109:2163-2177
مصطلحات موضوعية: Consensus, Virulence, Calibration, Genetics, Humans, Educational Status, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63d921f44375e47e5baccb6ef134edc1Test
https://doi.org/10.1016/j.ajhg.2022.10.013Test -
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المؤلفون: Erin Sutcliffe, Jessica Mester, Lisa Susswein, Maegan Roberts, Megan Marshall, Kathleen Hruska
المصدر: Genetics in Medicine. 24:S345-S346
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::63328e758f7c3993efb798f341425726Test
https://doi.org/10.1016/j.gim.2022.01.565Test -
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المؤلفون: Ruth A. Keri, Jessica Mester, Joanne Ngeow, Wei Wei, Farshad Niazi, Madhav Sankunny, Charis Eng, Ying Ni, Bin Zhang, Zhigang Liu, Lamis Yehia
المصدر: The American Journal of Human Genetics. 97(5):661-676
مصطلحات موضوعية: Male, Congenital dyserythropoietic anemia type II, Vesicular Transport Proteins, Fluorescent Antibody Technique, Apoptosis, medicine.disease_cause, Germline, Immunoenzyme Techniques, Mice, Cell Movement, Genotype, Missense mutation, Exome, Genetics(clinical), Thyroid cancer, Cells, Cultured, Genetics (clinical), Mice, Knockout, Genetics, Reverse Transcriptase Polymerase Chain Reaction, Thyroid, High-Throughput Nucleotide Sequencing, Cowden syndrome, Middle Aged, Endoplasmic Reticulum Stress, Prognosis, Pedigree, 3. Good health, Phenotype, medicine.anatomical_structure, Female, Adult, Heterozygote, Adolescent, Blotting, Western, Biology, Real-Time Polymerase Chain Reaction, Article, Young Adult, Cell Adhesion, medicine, Animals, Humans, RNA, Messenger, Thyroid Neoplasms, Germ-Line Mutation, Aged, Cell Proliferation, medicine.disease, Hamartoma Syndrome, Multiple, Carcinogenesis, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab52ab8b3c1d72d235f57a39ae0a9c9dTest
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المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Male, Population, medicine.disease_cause, Article, Germline, Epigenesis, Genetic, Genetics, medicine, Humans, PTEN, Thyroid Neoplasms, Promoter Regions, Genetic, 10. No inequality, education, Thyroid cancer, Genetic Association Studies, Genetics (clinical), Mutation, education.field_of_study, biology, Tumor Suppressor Proteins, PTEN Phosphohydrolase, Cowden syndrome, Methylation, DNA Methylation, medicine.disease, 3. Good health, DNA methylation, biology.protein, Cancer research, Female, Hamartoma Syndrome, Multiple
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcc2996bcaa9254210944d50c1e4e98dTest
https://doi.org/10.1038/ejhg.2015.8Test -
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المؤلفون: Emily A. Nizialek, Joanne Ngeow, Charis Eng, Jessica Mester, Chad M. Michener, Haider Mahdi
المصدر: Cancer. 121:688-696
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, biology, business.industry, SDHB, Endometrial cancer, Cancer, Cowden syndrome, Odds ratio, medicine.disease, Internal medicine, medicine, Cancer research, biology.protein, Tensin, PTEN, business, Prospective cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7a8498c2e16e205fc86ec927bf540802Test
https://doi.org/10.1002/cncr.29106Test -
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المؤلفون: Charis Eng, Katherine A. Koenig, Rebecca Embacher, Thomas W. Frazier, Jessica Mester, Amanda K. Tilot
المصدر: Molecular psychiatry
Molecular Psychiatry.مصطلحات موضوعية: Male, Adolescent, Autism Spectrum Disorder, Genetic counseling, Mutation, Missense, Bioinformatics, medicine.disease_cause, Synaptic Transmission, Article, Germline, Young Adult, Cellular and Molecular Neuroscience, Germline mutation, mental disorders, medicine, Humans, Missense mutation, PTEN, Prospective Studies, Child, Molecular Biology, Genetic Association Studies, Germ-Line Mutation, Genetics, Mutation, biology, PTEN Phosphohydrolase, Macrocephaly, Brain, medicine.disease, 3. Good health, Psychiatry and Mental health, Case-Control Studies, biology.protein, Autism, Female, medicine.symptom
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6df59d693f5c140857e5a800a029b56Test
https://doi.org/10.1038/mp.2014.125Test -
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المؤلفون: Jessica Mester, Charis Eng
المصدر: Journal of Surgical Oncology. 111:125-130
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Multiple cancer, business.industry, Thyroid, General Medicine, Cowden syndrome, medicine.disease, Dermatology, Timely diagnosis, Increased risk, medicine.anatomical_structure, Oncology, Multiple therapy, PTEN HAMARTOMA TUMOR SYNDROME, Medicine, Surgery, Hereditary Cancer, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::415b18403436150a53e4aa4f69cd29d4Test
https://doi.org/10.1002/jso.23735Test -
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المؤلفون: Jill S. Barnholtz-Sloan, Charis Eng, Joanne Ngeow, Kim Stanuch, Jessica Mester
المصدر: Journal of Clinical Oncology. 32:1818-1824
مصطلحات موضوعية: Adult, Male, Oncology, Cancer Research, medicine.medical_specialty, Pathology, Adolescent, DNA Mutational Analysis, Disease, Germline, Young Adult, Germline mutation, Risk Factors, Neoplasms, Internal medicine, medicine, Humans, PTEN, Genetic Predisposition to Disease, Prospective Studies, Young adult, Child, Prospective cohort study, Germ-Line Mutation, Aged, biology, business.industry, Thyroid, PTEN Phosphohydrolase, Neoplasms, Second Primary, ORIGINAL REPORTS, Cowden syndrome, Middle Aged, medicine.disease, medicine.anatomical_structure, biology.protein, Female, Hamartoma Syndrome, Multiple, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d071144aba1cfc9c268895dcb96a343Test
https://doi.org/10.1200/jco.2013.53.6656Test -
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المؤلفون: Charis Eng, Matthew D. Ringel, Benjamin Fletcher, Leigha Senter, Todd Romigh, Motoyasu Saji, Farshad Niazi, Lamis Yehia, Jessica Mester, Spencer Seballos, Thomas LaFramboise, Ying Ni
المصدر: Human Molecular Genetics
مصطلحات موضوعية: 0301 basic medicine, Male, Heterozygote, Epithelial-Mesenchymal Transition, Genotype, Thyroid Gland, Biology, medicine.disease_cause, Germline, Papillary thyroid cancer, Thyroid carcinoma, 03 medical and health sciences, 0302 clinical medicine, Cell Movement, Genetics, medicine, Basic Helix-Loop-Helix Transcription Factors, Tumor Microenvironment, Humans, Genetic Predisposition to Disease, Thyroid Neoplasms, Molecular Biology, Thyroid cancer, Genetics (clinical), Germ-Line Mutation, Sequence Deletion, Genome, Human, Thyroid, Carcinoma, Cancer, High-Throughput Nucleotide Sequencing, General Medicine, Cowden syndrome, Articles, medicine.disease, Endoplasmic Reticulum Stress, Carcinoma, Papillary, 3. Good health, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Thyroid Cancer, Papillary, 030220 oncology & carcinogenesis, Cancer research, Upstream Stimulatory Factors, Female, Carcinogenesis, Hamartoma Syndrome, Multiple, Peptides
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e793283314c466e58bd9510bcce9cb70Test
https://pubmed.ncbi.nlm.nih.gov/28011713Test -
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المؤلفون: Rebekah A. Moore, Charis Eng, Jessica Mester
المصدر: The Oncologist. 18:1083-1090
مصطلحات موضوعية: Adult, Oncology, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, medicine.medical_specialty, Cost-Benefit Analysis, Breast Neoplasms, Risk Assessment, Diagnosis, Differential, Germline mutation, Internal medicine, Humans, Medicine, PTEN, Genetic Testing, Germ-Line Mutation, Genetic testing, Clinical Genetics and Genetic Counseling, medicine.diagnostic_test, biology, business.industry, Endometrial cancer, PTEN Phosphohydrolase, Cowden syndrome, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, Endometrial Neoplasms, biology.protein, Female, Colorectal Neoplasms, Hamartoma Syndrome, Multiple, business, Ovarian cancer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::125ce6a12b5db3217ebe997164a60a41Test
https://doi.org/10.1634/theoncologist.2013-0174Test