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المؤلفون: Joseph Porrmann, Jens Schallner, Deepika D'Cunha Burkardt, Maria Lisa Dentici, Pedro A. Sanchez-Lara, Ghayda M. Mirzaa, John M. Graham, William B. Dobyns, Nataliya Di Donato, Nicole Horsley, Benson Lee, Filomena Pirozzi, Claudia Cesario
المصدر: Am J Med Genet A
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, endocrine system, Microcephaly, Adolescent, 030105 genetics & heredity, Biology, Short stature, Article, Frameshift mutation, 03 medical and health sciences, Exon, Cyclin D2, Genetics, medicine, Humans, Megalencephaly, Child, Genetics (clinical), Brain, Infant, Human brain, medicine.disease, Phenotype, Polydactyly, 030104 developmental biology, medicine.anatomical_structure, Polymicrogyria, Mutation, Female, medicine.symptom, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f13cae16d923801ca49cdfe2b5db66fTest
https://doi.org/10.1002/ajmg.a.62362Test -
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المؤلفون: Catherine M Rose, Pedro A. Sanchez-Lara, Katheryn Grand, Deepika D'Cunha Burkardt, Anju Relan, John C. Carey, Robert L. Conway, Cynthia J. Curry, Fatih Süheyl Ezgü, Raymond Y. Wang, Maria K. Haanpää
مصطلحات موضوعية: 0301 basic medicine, Medical education, Education, Medical, Genetics, Medical, Teaching, Teaching method, Perspective (graphical), 030105 genetics & heredity, Flipped classroom, Style (visual arts), 03 medical and health sciences, Socratic questioning, 030104 developmental biology, Honor, Genetics, ComputingMilieux_COMPUTERSANDEDUCATION, Humans, Curriculum, Sociology, Apprenticeship, Genetics (clinical), Healthcare system
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c90704e0d610525df48aa79834e2f66aTest
https://avesis.gazi.edu.tr/publication/details/a4e9df76-b1c1-4da4-acbd-511b79cbbe37/oaiTest -
3
المؤلفون: Deepika D'Cunha Burkardt, John C. Carey, Jeffrey A. Golden, Katta M. Girisha, Pedro A. Sanchez-Lara
المصدر: American journal of medical genetics. Part AREFERENCES. 185(9)
مصطلحات موضوعية: Teratology, media_common.quotation_subject, Honor, Genetics, Medical, Genetics, Humans, Abnormalities, Multiple, Art, History, 20th Century, History, 21st Century, Genetics (clinical), Classics, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b433c8cde09a2f0d23dab190b9387dTest
https://pubmed.ncbi.nlm.nih.gov/34245497Test -
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المؤلفون: Ali Salar Khalili, Monica Rondinelli, Sujithra Velayuthan, Jirair K. Bedoyan, Deepika D’Cunha Burkardt, Lauren Pronman
المصدر: Clinical Pediatrics. 58:819-824
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Mitochondrial Diseases, business.industry, Acyl-CoA Dehydrogenase, Long-Chain, Infant, medicine.disease, Lipid Metabolism, Inborn Errors, Failure to Thrive, Diagnosis, Differential, Muscular Diseases, Pediatrics, Perinatology and Child Health, Failure to thrive, Congenital Bone Marrow Failure Syndromes, Humans, Medicine, medicine.symptom, business, Pearson syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c8b458a36a7d291a0e5bd1884dbdd67Test
https://doi.org/10.1177/0009922819834285Test -
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المؤلفون: Joanna J. Chmielewska, Shamile Morgan, Peter D Turnpenny, Rachel Slaugh, Joshua Rotenberg, Anthony Wynshaw-Boris, Laurie H. Seaver, Jorge L. Granadillo, Deepika D’Cunha Burkardt, Magdalena Dziembowska, Melissa Zuteck, Luis F. Escobar, Cyril Mignot, Boris Keren, Rafał Płoski, Abidemi Adegbola
المصدر: HGG Advances, Vol 2, Iss 3, Pp 100033-(2021)
HGG advancesمصطلحات موضوعية: Genetics, Developmental Delay, Somatic cell, Neurodevelopment, Cell, Phosphatase, Somatic growth anomaly, Protein tyrosine phosphatase, QH426-470, Biology, Article, Germline, medicine.anatomical_structure, Intellectual Disability, PTPN4, medicine, Macrocephaly, Molecular Medicine, Missense mutation, Genetics (clinical), Function (biology), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e8adabe245b85d53a2d112b8ed41975Test
https://doi.org/10.1016/j.xhgg.2021.100033Test -
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المؤلفون: Sura Alwan, Angus John Clarke, Kenneth H. Astrin, Marina Bartsakoulia, Deepika D’Cunha Burkardt, Constantina Chalikiopoulou, Joshua L. Deignan, Robert J. Desnick, Shweta U. Dhar, Debra Lochner Doyle, Malcolm A. Ferguson-Smith, Jan M. Friedman, John M. Graham Jr., Daniel Graziano, Wayne W. Grody, Rachel Irving, Kenneth L. Jones, Marilyn C. Jones, Theodora Katsila, Muin J. Khoury, Matthew J. McGinniss, Molly A. McGinniss, John B. Moeschler, Angeliki Panagiotara, George P. Patrinos, Maren T. Scheuner, Edward H. Schuchman, Amita Sehgal, Efthymios Skoufas, Nancy B. Spinner, Massimo Trucco, Evangelia-Eirini Tsermpini, Marc S. Williams, Shirley L. Zhang
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dbb62a0f26475f610ec661df0838a173Test
https://doi.org/10.1016/b978-0-12-812536-6.01002-6Test -
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المؤلفون: Isuru Ranasinghe, Justin Fox, Deepika D’Cunha Burkardt, Cary P. Gross
المصدر: Medical Care. 52:801-808
مصطلحات موضوعية: Male, Patient Transfer, medicine.medical_specialty, Colonoscopy, Postoperative Complications, Ambulatory care, Acute care, Health care, medicine, Humans, Intensive care medicine, Healthcare Cost and Utilization Project, Aged, Quality Indicators, Health Care, Quality of Health Care, Retrospective Studies, medicine.diagnostic_test, business.industry, Public Health, Environmental and Occupational Health, Emergency department, Middle Aged, United States, Ambulatory care nursing, Ambulatory Surgical Procedures, Ambulatory, Emergency medicine, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c2fe478f66ece2d7525a8e82c416474Test
https://doi.org/10.1097/mlr.0000000000000176Test -
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المصدر: Clinical Pediatrics. 53:71-81
مصطلحات موضوعية: Chromosome Aberrations, Genetic Markers, Pediatrics, medicine.medical_specialty, Intestinal neuronal dysplasia, Primary Health Care, business.industry, Disease, Variable presentation, Primary care, medicine.disease, Diagnosis, Differential, Pediatrics, Perinatology and Child Health, Etiology, Humans, Medicine, Treatment strategy, Enteric nervous system, Hirschsprung Disease, business, Congenital megacolon
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef5661d89099dea4ab15aa7a2fec6159Test
https://doi.org/10.1177/0009922813500846Test