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1دورية أكاديمية
المؤلفون: Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
مصطلحات موضوعية: CRISPR, Genitopatellar syndrome, KAT6B‐related disorders, phenotypic spectrum, Say‐Barber‐Biesecker‐Young‐Simpson syndrome, variable expressivity, rare genetic diagnosis, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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المؤلفون: Svetlana Azova, Enju Liu, Joseph Wolfsdorf
المصدر: Pediatric Diabetes.
مصطلحات موضوعية: Article Subject, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Internal Medicine
وصف الملف: text/xhtml
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المؤلفون: Ari J. Wassner, Svetlana Azova, Jessica Smith, Laura Mansfield, Maureen M. Jonas, Biren P. Modi, Farrah Rajabi, Theonia K. Boyd, Anastasia Drobysheva
المصدر: Journal of Pediatric Endocrinology and Metabolism. 34:401-406
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Graves' disease, Thyroid, Thyroidectomy, 030209 endocrinology & metabolism, Disease, Left ventricular hypertrophy, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, medicine, Liothyronine, Thyroid function, business, Exome sequencing, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b4c9a069aae5d2af76bc18a4e1728d55
https://doi.org/10.1515/jpem-2020-0549 -
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المؤلفون: Kathryn Elliott, Siddharth Srivastava, Meghan C. Towne, Hannah Medsker, Catherine Gooch, Robin D. Clark, John M. Graham, Chanika Phornphutkul, Jill A. Madden, Pankaj B. Agrawal, Maria F. Palafox, Deborah Krakow, Meghna Singh, Daniela N. Schweitzer, Ryan Gates, Ali Fatemi, Kimberly Nugent, Katheryn Grand, Samantha A. Schrier Vergano, Brianna K. Murray, Kate A. Tauber, Weiyi Mu, Erin Swartz, Timothy W. Yu, Julie S. Cohen, Kimberly Glaser, Svetlana Azova, Paul J. Benke, Mary Kathryn Chambers, Dana H. Goodloe, Christina Kresge, Valerie A. Arboleda, John A. Pugh, Kristin W. Barañano, Megan Yabumoto, S. Joy Dean, Beth A. Pletcher, Subhadra Ramanathan, Angela Wei, Jessica Kianmahd, Elizabeth Roeder, Natalia Gomez-Ospina, Jessica Smith, Cynthia S. Gubbels, Anne H. O’Donnell-Luria
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 9, iss 10مصطلحات موضوعية: Male, Say-Barber-Biesecker-Young-Simpson syndrome, rare genetic diagnosis, QH426-470, Bioinformatics, Kidney, Cohort Studies, Craniofacial Abnormalities, Congenital, Intellectual disability, Medicine, CRISPR, 2.1 Biological and endogenous factors, variable expressivity, rare genetic diagnosis, Medical diagnosis, Aetiology, Genetics (clinical), Heart Defects, Histone Acetyltransferases, Pediatric, Patella, Phenotype, Scrotum, Original Article, Abnormalities, KAT6B-related disorders, Multiple, Heart Defects, Congenital, Joint Instability, Genitopatellar syndrome, Genotype, Genetic counseling, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Genetic Counseling, Blepharophimosis, Medicinal and Biomolecular Chemistry, Rare Diseases, Clinical Research, variable expressivity, Intellectual Disability, Congenital Hypothyroidism, Genetics, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Testing, Craniofacial, Molecular Biology, Alleles, Genetic Association Studies, KAT6B‐related disorders, business.industry, Facies, Original Articles, medicine.disease, Say‐Barber‐Biesecker‐Young‐Simpson syndrome, Transcriptome Sequencing, Brain Disorders, Genetic Loci, Urogenital Abnormalities, Mutation, Congenital Structural Anomalies, Psychomotor Disorders, business, phenotypic spectrum
وصف الملف: application/pdf
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المؤلفون: Svetlana Azova, Kaitlin Basham, David Breault, Gary Hammer, Christopher LaPensee, Amy O’Connell, Claudio Ribeiro, Kleiton Silva Borges, Adina Turcu, Donald Little III
المصدر: Journal of the Endocrine Society. 6:A80-A80
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::caae859eb643b5cd1a91d30d52d1e94e
https://doi.org/10.1210/jendso/bvac150.166 -
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المصدر: J Clin Invest
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.medical_treatment, Type 2 diabetes, Body weight, 03 medical and health sciences, Diet, Carbohydrate-Restricted, 0302 clinical medicine, Diabetes mellitus, medicine, Hyperinsulinemia, Humans, Insulin, Intensive care medicine, Type 1 diabetes, business.industry, Review Series, Cardiometabolic Risk Factors, General Medicine, medicine.disease, 030104 developmental biology, Postprandial, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, 030220 oncology & carcinogenesis, Hyperglycemia, Lower cost, business
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المؤلفون: Svetlana Azova, Joseph I. Wolfsdorf
المصدر: Journal of pediatric endocrinologymetabolism : JPEMReferences. 34(5)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Bicalutamide, Endocrinology, Diabetes and Metabolism, Anastrozole, Puberty, Precocious, 030209 endocrinology & metabolism, Administration, Cutaneous, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, 030225 pediatrics, medicine, Humans, Testosterone, Toddler, business.industry, Hypogonadism, Infant, Testosterone (patch), Testosterone Gel, medicine.anatomical_structure, Social history (medicine), Pediatrics, Perinatology and Child Health, Androgens, Differential diagnosis, business, Penis, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba0c320a4bbe86e98732c60c06c10a85
https://pubmed.ncbi.nlm.nih.gov/33660485 -
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المؤلفون: Robert Rapaport, Joseph I. Wolfsdorf, Svetlana Azova
مصطلحات موضوعية: medicine.medical_specialty, Diabetic ketoacidosis, business.industry, Internal medicine, medicine, Cardiology, business, medicine.disease, Pathophysiology, Cerebral edema
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0c1232636f94d8d845ada10f48240e6d
https://doi.org/10.1111/pedi.13152/v2/response1 -
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المؤلفون: Yanjia Jason Zhang, Amy E. O’Connell, Olga Kovbasnjuk, Jeff Goldsmith, Jay R. Thiagarajah, Yee-Ming Chan, Lissette Jimenez, Jessica Kremen, Svetlana Azova, Abdelrahman M. Elhusseiny, Hajirah N. Saeed, Alyaa Al-Ibraheemi, Lance H. Rodan, Pankaj B. Agrawal
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Adult, Diarrhea, Male, Pathology, medicine.medical_specialty, Disorders of Sex Development, Mutation, Missense, Enteroendocrine cell, Biology, Compound heterozygosity, Article, Frameshift mutation, 03 medical and health sciences, Dysgenesis, Genetics, medicine, Missense mutation, Humans, Enteropathy, Eye Abnormalities, Genitalia, Intestinal Mucosa, Stem Cell Niche, Genetics (clinical), 030304 developmental biology, Glycoproteins, 0303 health sciences, Disease genetics, 030305 genetics & heredity, Wnt signaling pathway, Infant, medicine.disease, Diarrhoea, Wnt Proteins, Phenotype, Gastric Mucosa, Female, Stem cell, Metabolism, Inborn Errors
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المؤلفون: Svetlana Azova, Mogilner Leora
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Gerontology, business.industry, Endocrinology, Diabetes and Metabolism, medicine, Healthcare Delivery and Education, Healthcare Delivery, Education, and Nursing, medicine.disease, business, Obesity, Pediatric overweight
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73cd372b72d689158fc0c39cd9026124
http://europepmc.org/articles/PMC6550692