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1دورية أكاديمية
المؤلفون: Alice Man, Matteo Di Scipio, Rebecca Hough, Haley McConkey, Eric Diehl, Christian Marshall, Bekim Sadikovic, Resham Ejaz
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101206- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424003522Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Alice Man, Matteo Di Scipio, Shan Grewal, Yujin Suk, Elisabetta Trinari, Resham Ejaz, Robyn Whitney
المصدر: Genes, Vol 15, Iss 3, p 332 (2024)
مصطلحات موضوعية: genetic epilepsies, mTORopathies, tuberous sclerosis complex, precision medicine, focal cortical dysplasia, genetic testing, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg
المصدر: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-14 (2019)
مصطلحات موضوعية: SMARCA2, NCBRS, DNA methylation, Signature, Epigenomics, Chromatin remodeling, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12920-019-0555-yTest; https://doaj.org/toc/1755-8794Test
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4دورية أكاديمية
المؤلفون: Peter J. B. Sabatini, Resham Ejaz, Dimitri J. Stavropoulos, Roberto Mendoza-Londono, Ann M. Joseph-George
المصدر: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-5 (2018)
مصطلحات موضوعية: Chromoanasynthesis, SYNGAP1, Familial transmission, Chromoanagenesis, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13039-018-0394-0Test; https://doaj.org/toc/1755-8166Test
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5
المؤلفون: Michelle Robyn, Schneeweiss, Breanne, Dale, Resham, Ejaz
المصدر: BMJ case reports. 15(12)
مصطلحات موضوعية: Male, Craniofacial Abnormalities, Phenotype, Autism Spectrum Disorder, Neurodevelopmental Disorders, Intellectual Disability, Humans, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f05d53f8091aaf4c3db6b048de5e4cf1Test
https://pubmed.ncbi.nlm.nih.gov/36593604Test -
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المؤلفون: Michelle Robyn Schneeweiss, Breanne Dale, Resham Ejaz
المصدر: BMJ Case Reports. 15:e248995
مصطلحات موضوعية: General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cc67bdab85f2f96657600030e4f3bb6fTest
https://doi.org/10.1136/bcr-2022-248995Test -
7
المؤلفون: Na Li, Emily Sirotich, Rebecca Barty, Siraj Mithoowani, Donald M. Arnold, Nishwa Shah, Andrea Cervi, Resham Ejaz, Ishac Nazy
المصدر: Journal of Thrombosis and Haemostasis. 18:1783-1790
مصطلحات موضوعية: Male, medicine.medical_specialty, Hemorrhage, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Interquartile range, hemic and lymphatic diseases, Internal medicine, medicine, Humans, Aged, Retrospective Studies, Purpura, Thrombocytopenic, Idiopathic, Platelet Count, business.industry, Retrospective cohort study, Hematology, Odds ratio, Emergency department, Bleed, medicine.disease, Thrombocytopenia, Thrombosis, Confidence interval, 3. Good health, Purpura, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6921c7d2597fcd54fd2e1df07f8dc18Test
https://doi.org/10.1111/jth.14809Test -
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المؤلفون: Breanne Dale, Elaine Choi, Resham Ejaz, Rajesh RamachandranNair
المصدر: Neurology: Genetics
article-version (Version of Record) 3مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, Ataxia, medicine.diagnostic_test, business.industry, Physical examination, medicine.disease, Hypotonia, Epilepsy, Neurodevelopmental disorder, Intellectual disability, medicine, Missense mutation, Neurology (clinical), medicine.symptom, business, Clinical/Scientific Notes, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b6ce4c2beaacdac56cc51d2ed805fcTest
http://europepmc.org/articles/PMC8356699Test -
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المؤلفون: Christian R. Marshall, Dimitri J. Stavropoulos, Riyana Babul-Hirji, Stephen W. Scherer, David Chitayat, Susan Walker, Resham Ejaz, Susan Blaser, Anath C. Lionel
المصدر: American Journal of Medical Genetics Part A. 173:2725-2730
مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Mutation, Missense, 030105 genetics & heredity, Biology, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Tubulin, Genetics, medicine, Humans, Genetic Predisposition to Disease, Vocal cord paralysis, Dysmorphic facial features, Gene, Genetics (clinical), Muscle contracture, Arthrogryposis, Brain Diseases, Optic nerve hypoplasia, Arthrogryposis multiplex congenita, medicine.disease, Isotype, Phenotype, Child, Preschool, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cfec4798d903c57f0686fc72a75c0b4Test
https://doi.org/10.1002/ajmg.a.38352Test -
10
المؤلفون: Resham Ejaz, Riyana Babul-Hirji, David Chitayat
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Case Report, Case Reports, Gene mutation, Genetic Condition, Bioinformatics, 03 medical and health sciences, Clinical report, follow‐up studies, SMARCA2, Intellectual disability, Medicine, business.industry, General Medicine, medicine.disease, Natural history, 030104 developmental biology, Nicolaides–Baraitser syndrome, intellectual disability, natural history, Clinical diagnosis, Mutation (genetic algorithm), sparse hair, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0318cfb68c7b8122d2204293dceb5adbTest
https://doi.org/10.1002/ccr3.425Test