المؤلفون: Maryam Nabavi Nouri, Lama Alandijani, Kalene van Engelen, Soumitra Tole, Emilie Lalonde, Tugce B. Balci

المصدر: Genes, Vol 15, Iss 7, p 836 (2024)

مصطلحات موضوعية: refractory epilepsy, NPRL3, focal cortical dysplasia, hemoglobinopathy, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/7/836; https://doaj.org/toc/2073-4425; https://doaj.org/article/6b9d2506e873407dafbf9b3ef6cb72fa

الاتاحة: https://doi.org/10.3390/genes15070836
https://doaj.org/article/6b9d2506e873407dafbf9b3ef6cb72fa

المؤلفون: Felix Boschann, Henrike Sczakiel, Max Zhao, Magdalena Danyel, Corinna Stoltenburg, Nadirah Damseh, Motee Ashhab, Tugce Balci, Kalene van Engelen, Matt Osmond, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarad, Atieh Eslahi, Behnaz Bakaeean, Reza Maroofian, Nadja Ehmke, Dominik Seelow, Denise Horn

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db841332032830bda691c701211d4d2a
https://doi.org/10.21203/rs.3.rs-2256298/v1

المؤلفون: Josée Brossard, Kathleen Felton, Jemma Say, Adam Fleming, Valerie Larouche, Ronald Grant, Katherine A Blood, Uri Tabori, Melissa Tachdjian, Chantel Cacciotti, Rawan Hammad, Noelle Cullinan, Catherine Goudie, Vijay Ramaswamy, Lucie Lafay-Cousin, Kalene van Engelen, Kim E. Nichols, Ledia Brunga, Linlea Armstrong, Kimberly Caswell, Stephanie Vairy, Jonathan D. Wasserman, Mary Egan Clark, Conrad V. Fernandez, Katherine M. Tucker, Nandini Dendukuri, James A. Whitlock, Ian Schiller, David Malkin, Gino Somers, Annie-Kim Toupin, Nada Jabado, M. Stephen Meyn, Nicolas Waespe, Sonia Cellot, Daniel Sinnett, Paul Gibson, My Linh Thibodeau, Donna L. Johnston, William D. Foulkes, Rebecca J. Deyell, Angela Punnett, David S. Ziegler, Irene Lara-Corrales, Junne Kamihara, Sarah R. Kane, Meghan Pike, Natalie Mathews, Catherine Clinton, Renee Perrier, Lynn W. Harrison, Meredith S. Irwin, Noemi Fuentes-Bolanos, Orli Michaeli, Meera Warby, Adam Shlien, Leora Witkowski, Anita Villani, Hallie Coltin, Paul C. Nathan, Lara Reichman

المصدر: JAMA Oncol

مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Referral, Genetic counseling, Internal medicine, Neoplasms, Medicine, Humans, In patient, Genetic Predisposition to Disease, Genetic Testing, Medical diagnosis, 610 Medicine & health, Child, Early Detection of Cancer, Genetic testing, Original Investigation, medicine.diagnostic_test, business.industry, Cancer predisposition, Cancer, Syndrome, medicine.disease, Oncology, Child, Preschool, business, Risk assessment, 360 Social problems & social services

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23a48d03250f47090cb4e4e5144996f3
https://pubmed.ncbi.nlm.nih.gov/34617981

المؤلفون: Jonathan D. Wasserman, Maru Barrera, Susan Armel, David Malkin, Anita Villani, David Chitayat, Harriet Druker, Bailey Gallinger, Kalene van Engelen

المصدر: Pediatric Blood & Cancer. 68

مصطلحات موضوعية: Parents, medicine.medical_specialty, Adolescent, media_common.quotation_subject, Immediate family, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, Cancer screening, Health care, Humans, Medicine, Child, Qualitative Research, media_common, business.industry, Communication, Hematology, Pediatric cancer, Caregivers, Oncology, 030220 oncology & carcinogenesis, Family medicine, Pediatrics, Perinatology and Child Health, Disease Susceptibility, Worry, Thematic analysis, business, Psychosocial, 030215 immunology, Qualitative research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb68625aa4080b70254c6c4184d528fe
https://doi.org/10.1002/pbc.29021

المؤلفون: Kalene van Engelen, David Malkin, M. Stephen Meyn, Jonathan D. Wasserman, Anita Villani, Harriet Druker, Bailey Gallinger, Laura Aronoff, Raymond H. Kim

المصدر: Journal of Medical Genetics. 55:395-402

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oncology, Heterozygote, medicine.medical_specialty, von Hippel-Lindau Disease, Adolescent, Somatic cell, Young Adult, 03 medical and health sciences, White blood cell, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, In Situ Hybridization, Fluorescence, Telomere Shortening, Genetics (clinical), medicine.diagnostic_test, Anticipation, Genetic, business.industry, Proportional hazards model, Infant, Telomere, Flow Cytometry, Pedigree, Killer Cells, Natural, 030104 developmental biology, medicine.anatomical_structure, Von Hippel-Lindau Tumor Suppressor Protein, Child, Preschool, Anticipation (genetics), Cohort, Female, Age of onset, business, Granulocytes, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::194e6e60ac83cf66a80dad812fae19f3
https://doi.org/10.1136/jmedgenet-2017-104882

المؤلفون: William D. Foulkes, Anita Villani, Noelle Cullinan, Kalene van Engelen, Ronald Grant, Gino R. Somers, Lara Reichman, Rosanna Weksberg, Stephanie Mourad, David Malkin, Derek Stephens, Catherine Goudie

المصدر: International journal of cancerReferences. 146(4)

مصطلحات موضوعية: Prioritization, Male, Cancer Research, medicine.medical_specialty, Decision support system, Canada, Referral, Adolescent, Population, Wilms Tumor, 03 medical and health sciences, 0302 clinical medicine, Health care, medicine, eHealth, Humans, Genetic Testing, education, Child, WT1 Proteins, Referral and Consultation, Retrospective Studies, education.field_of_study, business.industry, Cancer predisposition, Infant, Wilms' tumor, medicine.disease, Decision Support Systems, Clinical, Kidney Neoplasms, Telemedicine, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Family medicine, Child, Preschool, Practice Guidelines as Topic, Female, business, Algorithms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a096097fea1274a93a573748fa5e0500
https://pubmed.ncbi.nlm.nih.gov/31286500

المؤلفون: Noelle Cullinan, Natalie Mathews, Kalene van Engelen, Catherine Goudie, Anita Villani, William D. Foulkes, David Malkin, Meredith S. Irwin

المصدر: Pediatric bloodcancer. 65(12)

مصطلحات موضوعية: 0301 basic medicine, Male, Referral, Adolescent, 03 medical and health sciences, Neuroblastoma, Fanconi anemia, Gene duplication, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Family history, Child, Referral and Consultation, Retrospective Studies, business.industry, Infant, Retrospective cohort study, Hematology, medicine.disease, Decision Support Systems, Clinical, Neuroblastic Tumor, 3. Good health, 030104 developmental biology, Oncology, Current practice, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, Algorithm, Algorithms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7e1ad1e14d39ab82afa9dbe6fd6e78
https://pubmed.ncbi.nlm.nih.gov/30117275

المؤلفون: Stephen Gordon, Kalene van Engelen, Calvin Ho-Fung Lau, Edward Topp, Justin B. Renaud

المصدر: Applied and Environmental Microbiology. 83

مصطلحات موضوعية: 0301 basic medicine, Ecology, Public and Environmental Health Microbiology, medicine.drug_class, business.industry, Antibiotics, Pathogenic bacteria, Computational biology, Biology, medicine.disease_cause, Applied Microbiology and Biotechnology, Resistome, Biotechnology, 03 medical and health sciences, 030104 developmental biology, Antibiotic resistance, Metagenomics, medicine, Microbiome, Efflux, business, Soil microbiology, Food Science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0f075e79faaa5275f3b9a4d1e9c6d0d
https://doi.org/10.1128/aem.00989-17

المؤلفون: Kalene van Engelen, Marta Tijerin Bueno, Jonathan D. Wasserman, Ronald Grant, Harriet Druker, Bailey Gallinger, Mary-Louise C. Greer, Laura Aronoff, Raymond H. Kim, Anita Villani, M. Stephen Meyn, David Malkin

المصدر: Pediatric bloodcancer. 65(1)

مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Pleuropulmonary blastoma, Tertiary care, Asymptomatic, Pineal Gland, 03 medical and health sciences, 0302 clinical medicine, Neoplastic Syndromes, Hereditary, medicine, Missense mutation, Humans, Child, Genetic testing, DICER1 Syndrome, medicine.diagnostic_test, business.industry, Brain Neoplasms, Infant, Newborn, Infant, Hematology, medicine.disease, Primary Neoplasm, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Pinealoma, Pulmonary Blastoma, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03cc344abc0bcf1dca5e3c872118f764
https://pubmed.ncbi.nlm.nih.gov/28960912

المؤلفون: Rayan A. Ahyad, Anita Villani, Ronald Grant, Mary-Louise C. Greer, Bailey Gallinger, David Malkin, Alejandro De la Puente Gregorio, Harriet Druker, Laura Aronoff, Claudia Martinez-Rios, Marta Tijerin Bueno, Kalene van Engelen

المصدر: Pediatric radiology. 47(10)

مصطلحات موضوعية: Thyroid nodules, Male, Ribonuclease III, Pathology, medicine.medical_specialty, Adolescent, Pleuropulmonary blastoma, 030218 nuclear medicine & medical imaging, DEAD-box RNA Helicases, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, medicine, Humans, Radiology, Nuclear Medicine and imaging, Genetic Predisposition to Disease, Child, Neuroradiology, DICER1 Syndrome, Retrospective Studies, Pineoblastoma, business.industry, Cystic nephroma, Thyroid, Infant, Newborn, Infant, Syndrome, medicine.disease, medicine.anatomical_structure, Phenotype, 030220 oncology & carcinogenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Female, Embryonal rhabdomyosarcoma, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53afb27bdb9a7a33aa7e4521b2b9419d
https://pubmed.ncbi.nlm.nih.gov/28474256