المؤلفون: Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F, Wei, Angela, Elliott, Kathryn, Goodloe, Dana H, Dean, S Joy, Gooch, Catherine, Murray, Brianna K, Swartz, Erin, Vergano, Samantha A Schrier, Towne, Meghan C, Nugent, Kimberly, Roeder, Elizabeth R, Kresge, Christina, Pletcher, Beth A, Grand, Katheryn, Graham, John M, Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J, Cohen, Julie S, Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Agrawal, Pankaj B, Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A, Tauber, Kate A, Azova, Svetlana, Smith, Jessica R, O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N, Arboleda, Valerie A

المصدر: Molecular Genetics & Genomic Medicine. 9(10)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Congenital Structural Anomalies, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Alleles, Blepharophimosis, Cohort Studies, Congenital Hypothyroidism, Craniofacial Abnormalities, Facies, Genetic Association Studies, Genetic Counseling, Genetic Loci, Genetic Predisposition to Disease, Genotype, Heart Defects, Congenital, Histone Acetyltransferases, Humans, Intellectual Disability, Joint Instability, Kidney, Male, Mutation, Patella, Phenotype, Psychomotor Disorders, Scrotum, Urogenital Abnormalities, CRISPR, Genitopatellar syndrome, KAT6B-related disorders, phenotypic spectrum, Say-Barber-Biesecker-Young-Simpson syndrome, variable expressivity, rare genetic diagnosis, variable expressivity, rare genetic diagnosis, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9ct9z1smTest

المؤلفون: Weston, Sharon, McNamara, Maura, Ruiz-Valenzuela, Carolina, McShane, Erin, Azova, Svetlana, Fleischman, Amy

المصدر: Current Developments in Nutrition ; volume 7, page 101634 ; ISSN 2475-2991

مصطلحات موضوعية: Nutrition and Dietetics, Food Science, Medicine (miscellaneous)

الإتاحة: https://doi.org/10.1016/j.cdnut.2023.101634Test
https://api.elsevier.com/content/article/PII:S2475299123263349?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2475299123263349?httpAccept=text/plainTest

المؤلفون: Zhang, Yanjia Jason, Jimenez, Lissette, Azova, Svetlana, Kremen, Jessica, Chan, Yee-Ming, Elhusseiny, Abdelrahman M., Saeed, Hajirah, Goldsmith, Jeffrey, Al-Ibraheemi, Alyaa, O’Connell, Amy E., Kovbasnjuk, Olga, Rodan, Lance, Agrawal, Pankaj B., Thiagarajah, Jay R.

المساهمون: U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases, Boston Children’s Hospital

المصدر: European Journal of Human Genetics ; volume 29, issue 6, page 998-1007 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-021-00812-1Test
http://www.nature.com/articles/s41431-021-00812-1.pdfTest
http://www.nature.com/articles/s41431-021-00812-1Test

المؤلفون: Azova, Svetlana^1,2, Liu, Enju³, Wolfsdorf, Joseph^1,2

المصدر: Pediatric Diabetes. 2/28/2023, p1-10. 10p.

مصطلحات موضوعية: *DATABASES, *LENGTH of stay in hospitals, *BLOOD urea nitrogen, *PEDIATRICS, *TREATMENT duration, *ACQUISITION of data, *COMPARATIVE studies, *SEVERITY of illness index, *TREATMENT delay (Medicine), *HEALTH literacy, *SYMPTOMS, *MEDICAL records, *DEHYDRATION, *RESEARCH funding, *BRAIN injuries, *HYPERTONIC saline solutions, *DRUG utilization, *ELECTRONIC health records, *COGNITIVE testing, *COVID-19 pandemic, *DIABETIC acidosis, *DISEASE complications

المؤلفون: Azova, Svetlana, Mogilner, Leora

المصدر: Childhood Obesity ; volume 17, issue 8, page 507-515 ; ISSN 2153-2168 2153-2176

مصطلحات موضوعية: Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1089/chi.2021.0095Test

المؤلفون: Azova, Svetlana, Wolfsdorf, Joseph

المساهمون: National Institute of Diabetes and Digestive and Kidney Diseases

المصدر: Journal of Pediatric Endocrinology and Metabolism ; volume 34, issue 5, page 675-678 ; ISSN 0334-018X 2191-0251

الإتاحة: https://doi.org/10.1515/jpem-2020-0616Test

المؤلفون: Rusinek, Henry, Ha, Jenny, Yau, Po Lai, Storey, Pippa, Tirsi, Aziz, Tsui, Wai Hon, Frosch, Olivia, Azova, Svetlana, Convit, Antonio

المصدر: Journal of Cerebral Blood Flow & Metabolism ; volume 35, issue 1, page 95-102 ; ISSN 0271-678X 1559-7016

الإتاحة: https://doi.org/10.1038/jcbfm.2014.173Test

المؤلفون: Azova, Svetlana, Rajabi, Farrah, Modi, Biren P., Mansfield, Laura, Jonas, Maureen M., Drobysheva, Anastasia, Boyd, Theonia K., Wassner, Ari J., Smith, Jessica R.

المساهمون: National Institute of Diabetes and Digestive and Kidney Diseases

المصدر: Journal of Pediatric Endocrinology and Metabolism ; volume 34, issue 3, page 401-406 ; ISSN 2191-0251 0334-018X

الإتاحة: https://doi.org/10.1515/jpem-2020-0549Test
https://www.degruyter.com/view/journals/jpem/ahead-of-print/article-10.1515-jpem-2020-0549/article-10.1515-jpem-2020-0549.xmlTest

المؤلفون: Azova, Svetlana¹ svetlana.azova@childrens.harvard.edu, Rapaport, Robert², Wolfsdorf, Joseph^1,3

المصدر: Pediatric Diabetes. Mar2021, Vol. 22 Issue 2, p148-160. 13p.

مصطلحات موضوعية: *APOPTOSIS, *BRAIN injuries, *DIABETIC acidosis, *CEREBRAL edema, *REPERFUSION injury, *CEREBRAL ischemia, *DISEASE risk factors

المؤلفون: Azova, Svetlana, Rajabi, Farrah, Modi, Biren P., Mansfield, Laura, Jonas, Maureen M., Drobysheva, Anastasia, Boyd, Theonia K., Wassner, Ari J., Smith, Jessica R.

المصدر: Journal of Pediatric Endocrinology & Metabolism; Mar2021, Vol. 34 Issue 3, p401-406, 6p