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1دورية أكاديمية
المؤلفون: Prashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, Asuri N. Prasad, Akshya Vasudev, Andrew Mantulak, Beth K. Potter, Chitra Prasad
المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100654- (2020)
مصطلحات موضوعية: Parental experiences, Spousal relationships, Inborn errors of metabolism, Psychosocial stressors, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Yvonne G. Weber, Mujaddad Ur Rehman, Massimo Zeviani, Srinitya Gannavarapu, Sirous Zeinali, Sanmati Cuddapah, Zheng Yie Yap, Sukyeong Lee, Javeria Raza Alvi, Adi Reich, Wan Hee Yoon, Isabelle Schrauwen, Tahsin Stefan Barakat, Pasquale Striano, Andrea Legati, Ingo Helbig, Sarah von Spiczak, Vincenzo Salpietro, Henry Houlden, Kolsoum Saeidi, Cholsoon Jang, Mohammad-Sadegh Fallah, Alessia Nasca, Abigail Sandoval, Elham Davoudi-Dehaghani, Karen Vargas Parra, Kshitij Mankad, Stephanie Efthymiou, Anja Wagner, Sunhee Jung, Suzanne M. Leal, Manuela Pendziwiat, Bibi Nazia Murtaza, Daniele Ghezzi, Muhammad Nadeem, Elizabeth J. Bhoj, Costanza Lamperti, Reza Maroofian, Simone Seiffert, Barbara Vona
المساهمون: Clinical Genetics
المصدر: American Journal of Human Genetics, 108(12), 2368-2384. Cell Press
Am J Hum Genetمصطلحات موضوعية: Male, Microcephaly, DNA Mutational Analysis, Compound heterozygosity, Cohort Studies, Exon, Missense mutation, Child, Cells, Cultured, Genetics (clinical), Exome sequencing, Genetics, CRISPR-Cas9 gene editing, Cultured, mitochondria, Drosophila melanogaster, Drosophila, Female, medicine.symptom, Ataxia, Cells, RNA Splicing, Vision Disorders, Biology, bi-allelic, Article, Frameshift mutation, SDG 3 - Good Health and Well-being, medicine, Animals, Humans, Ketoglutarate Dehydrogenase Complex, Allele, developmental and epileptic encephalopathy, Hearing Loss, Alleles, DEE, Family Health, Epilepsy, Fibroblasts, medicine.disease, OGDHL, neurodevelopmental disease, α-ketoglutarate, exome sequencing, Neurodevelopmental Disorders, Mutation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcf63fb5388350ffc202a476413c2a9e
https://pure.eur.nl/en/publications/320792d0-0dbd-4c19-9cf9-be5e9a1535b8 -
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المؤلفون: Melanie Napier, Beth K. Potter, Andrew Mantulak, Asuri N. Prasad, Chitra Prasad, Akshya Vasudev, Srinitya Gannavarapu, Prashanth Rajasekar
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100654-(2020)
Paediatrics Publicationsمصطلحات موضوعية: Spousal relationships, media_common.quotation_subject, Disease, Inborn errors of metabolism, Interview guide, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, Parental experiences, Molecular Biology, lcsh:QH301-705.5, media_common, 0303 health sciences, lcsh:R5-920, Health professionals, 030305 genetics & heredity, Stressor, Qualitative descriptive, Ambiguity, lcsh:Biology (General), Psychology, lcsh:Medicine (General), Psychosocial, 030217 neurology & neurosurgery, Clinical psychology, Research Paper, Psychosocial stressors
وصف الملف: application/pdf
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المؤلفون: Srinitya Gannavarapu, Madhavi Prasad, Chitra Prasad
المصدر: University of Western Ontario Medical Journal.
مصطلحات موضوعية: food and beverages
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2669c60b551bbd9e60ad69abc8c16349
https://doi.org/10.5206/uwomj.v88i1.6187 -
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المؤلفون: Tony Rupar, Srinitya Gannavarapu
المصدر: Molecular Genetics and Metabolism. 132:S42
مصطلحات موضوعية: Metachromatic leukodystrophy, Endocrinology, Chemistry, Endocrinology, Diabetes and Metabolism, Mesenchymal stem cell, Genetics, medicine, medicine.disease, Molecular Biology, Biochemistry, Function (biology), Cell biology
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المؤلفون: Beth K. Potter, Srinitya Gannavarapu, Greg Moran, Sharan Goobie, Chitra Prasad, Kathleen O'Connor, Pranesh Chakraborty, Jennifer DiRaimo, C. A. Rupar, Tara Jukes
المصدر: Paediatrics Publications
مصطلحات موضوعية: 0301 basic medicine, Adult, Multivariate analysis, Genetic counseling, Mothers, Genetic Counseling, 030105 genetics & heredity, Pediatrics, Article, genetic testing, 03 medical and health sciences, stress, 0302 clinical medicine, Neonatal Screening, Multivariate analysis of variance, newborn, 030225 pediatrics, Genetics, Medicine, Humans, Genetic Testing, Genetics (clinical), Depression (differential diagnoses), Genetic testing, Newborn screening, genetic counseling, medicine.diagnostic_test, business.industry, Infant, Newborn, infant, female, Anxiety, Female, inborn errors, psychological, medicine.symptom, business, Psychosocial, metabolism, Metabolism, Inborn Errors, Stress, Psychological, Clinical psychology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::038ed88cdc8cb01f9fa2b47a4fd9f93e
https://ir.lib.uwo.ca/paedpub/324 -
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المؤلفون: Srinitya Gannavarapu, Pranesh Chakraborty, Michael T. Geraghty, Jennifer MacKenzie, C. Anthony Rupar, Sharan Goobie, Tatiana Munoz, Andreas Schulze, Maria D. Karaceper, Lihua Li, Murray A. Potter, Jennifer DiRaimo, Osama Y. Al-Dirbashi, Chitra Prasad, Melanie Napier
المصدر: Molecular genetics and metabolism. 116(3)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Heterozygote, Endocrinology, Diabetes and Metabolism, Biotin, Pilot Projects, Compound heterozygosity, Biochemistry, Amidohydrolases, chemistry.chemical_compound, Endocrinology, Atrophy, Neonatal Screening, Genetics, Medicine, Humans, Biotinidase activity, Family history, Child, Hearing Loss, Molecular Biology, Alleles, Genetic Association Studies, Ontario, Newborn screening, Biotinidase Deficiency, business.industry, Biotinidase, Biotinidase deficiency, Homozygote, Infant, Newborn, Disease Management, Infant, medicine.disease, chemistry, Child, Preschool, Mutation, Female, business
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