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1دورية أكاديمية
المؤلفون: Satheesh Chonat, Mary Risinger, Haripriya Sakthivel, Omar Niss, Jennifer A. Rothman, Loan Hsieh, Stella T. Chou, Janet L. Kwiatkowski, Eugene Khandros, Matthew F. Gorman, Donald T. Wells, Tamara Maghathe, Neha Dagaonkar, Katie G. Seu, Kejian Zhang, Wenying Zhang, Theodosia A. Kalfa
المصدر: Frontiers in Physiology, Vol 10 (2019)
مصطلحات موضوعية: SPTA1, α-spectrin, αLEPRA, hereditary spherocytosis, next generation sequencing, hemolytic anemia, Physiology, QP1-981
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Satheesh Chonat, Mary Risinger, Haripriya Sakthivel, Omar Niss, Jennifer A. Rothman, Loan Hsieh, Stella T. Chou, Janet L. Kwiatkowski, Eugene Khandros, Matthew F. Gorman, Donald T. Wells, Tamara Maghathe, Neha Dagaonkar, Katie G. Seu, Kejian Zhang, Wenying Zhang, Theodosia A. Kalfa
المصدر: Frontiers in Physiology, Vol 10 (2019)
مصطلحات موضوعية: SPTA1, α-spectrin, αLEPRA, hereditary spherocytosis, next generation sequencing, hemolytic anemia, Physiology, QP1-981
وصف الملف: electronic resource
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3
المؤلفون: Yoav Kohn, Neha Dagaonkar, Shlomit Rienstein, David Goldstein, Shahar Shohat, Eti Chitrit-Raveh, Erin L. Heinzen, Vimla S. Aggarwal, Sagiv Shifman, Anna Alkelai, Tanya Schechter, Daniel Hughes, Benjamin Draiman, Lior Greenbaum
المصدر: Journal of Human Genetics. 66:339-343
مصطلحات موضوعية: 0301 basic medicine, Genetics, AMPA receptor, 030105 genetics & heredity, Biology, medicine.disease, Phenotype, 03 medical and health sciences, Epilepsy, 030104 developmental biology, Schizophrenia, Autism spectrum disorder, Intellectual disability, medicine, biology.protein, GRIA2, Genetics (clinical), Loss function
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4
المؤلفون: Hila Milo-Rasouly, Sophia R. Cameron-Christie, Vimla Aggarwal, Carolina Haefliger, Byum Hee Kil, Adam Platt, Brett Copeland, Andrew S. Bomback, Wan Yee Lam, Natalie S Uy, Simone Sanna-Cherchi, Junying Zhang, Rachel Reingold, Zhong Ren, Stacy Piva, Adele Mitrotti, David J. Cohen, Debanjana Chatterjee, Ruth March, Emily E. Groopman, Maddalena Marasa, Drew Bradbury, Sumit Mohan, Michael DiVecchia, David Goldstein, Shumyle Alam, Colin D. Malone, Jordan G. Nestor, Jan Fleckner, Chunhua Weng, Gerald B. Appel, Yifu Li, Priya Krithivasan, Russell J. Crew, Neha Dagaonkar, Olivia Balderes, Karla Mehl, David Fasel, Holly J. Snyder, Maya K. Rao, Joshua Bridgers, Geoffrey K. Dube, Krzysztof Kiryluk, Pietro A. Canetta, Bengt Fellström, Ali G. Gharavi, Jai Radhakrishnan, Wooin Ahn, Caroline Mebane, Slavé Petrovski, Xueru Mu, Sitharthan Kamalakaran
المصدر: New England Journal of Medicine. 380:142-151
مصطلحات موضوعية: Adult, Male, Nephrology, medicine.medical_specialty, Diagnostic methods, Computational biology, 030204 cardiovascular system & hematology, Article, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Exome Sequencing, Humans, Medicine, Genetic Predisposition to Disease, Exome, Genetic Testing, 030212 general & internal medicine, Renal Insufficiency, Chronic, Exome sequencing, Aged, business.industry, Extramural, Genetic Variation, Sequence Analysis, DNA, General Medicine, Middle Aged, medicine.disease, Mutation, Medical genetics, business, Glomerular Filtration Rate, Kidney disease
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5
المؤلفون: Anna, Alkelai, Shahar, Shohat, Lior, Greenbaum, Tanya, Schechter, Benjamin, Draiman, Eti, Chitrit-Raveh, Shlomit, Rienstein, Neha, Dagaonkar, Daniel, Hughes, Vimla S, Aggarwal, Erin L, Heinzen, Sagiv, Shifman, David B, Goldstein, Yoav, Kohn
المصدر: Journal of human genetics. 66(3)
مصطلحات موضوعية: Aggression, Aphasia, Broca, Obsessive-Compulsive Disorder, Young Adult, Attention Deficit Disorder with Hyperactivity, Learning Disabilities, Loss of Function Mutation, Exome Sequencing, Humans, Female, Receptors, AMPA, Anxiety, Schizophrenia, Childhood
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6
المؤلفون: Marya Obaid Almansoori, Kejian Zhang, Karol Kerr, Theodosia A. Kalfa, Omar Niss, Neha Dagaonkar, Maa Ohui Quarmyne, Satheesh Chonat, Zora R. Rogers, Mary Risinger, Patrick T. McGann
المصدر: Blood Cells, Molecules, and Diseases. 61:4-9
مصطلحات موضوعية: Male, 0301 basic medicine, Hemolytic anemia, Adolescent, Pyropoikilocytosis, Hereditary elliptocytosis, DNA Mutational Analysis, Biology, medicine.disease_cause, Article, 03 medical and health sciences, Elliptocytosis, 0302 clinical medicine, Genotype, medicine, Humans, Child, Medical History Taking, Molecular Biology, Genetic Association Studies, Genetics, Mutation, Erythrocyte Membrane, Elliptocytosis, Hereditary, Infant, Membrane Proteins, Spectrin, EPB41, Cell Biology, Hematology, medicine.disease, Pedigree, Cytoskeletal Proteins, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, Immunology, Molecular Medicine, Female, Hereditary pyropoikilocytosis
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7
المؤلفون: Ammar Husami, Diane Kissell, Karen Lammers, Neha Dagaonkar, Kejian Zhang, Anne W. Lucky
المصدر: Pediatric dermatology. 35(2)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Dermatology, Junctional epidermolysis bullosa (medicine), DNA sequencing, 030207 dermatology & venereal diseases, 03 medical and health sciences, symbols.namesake, Epidermolysis bullosa simplex, Young Adult, 0302 clinical medicine, otorhinolaryngologic diseases, medicine, Humans, Clinical significance, Child, Direct fluorescent antibody, Genetic testing, Aged, Ohio, Skin, Sanger sequencing, integumentary system, medicine.diagnostic_test, business.industry, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Middle Aged, medicine.disease, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, symbols, Female, Epidermolysis bullosa, business, Epidermolysis Bullosa
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8
المؤلفون: Kejian Zhang, Theodosia A. Kalfa, Charles T. Quinn, Edyta Glogowska, Neha Dagaonkar, Clinton H. Joiner, Satheesh Chonat, Mary Risinger, Patrick G. Gallagher
المصدر: American journal of hematology. 93(3)
مصطلحات موضوعية: 0301 basic medicine, Erythrocyte Indices, Male, medicine.medical_specialty, Hydrops Fetalis, Mutation, Missense, Anemia, Hemolytic, Congenital, Ion Channels, Article, 03 medical and health sciences, Hemoglobins, Reticulocyte Count, Reticulocyte count, Cholelithiasis, Erythrocyte Deformability, Medicine, Humans, Intensive care medicine, Conserved Sequence, business.industry, Extramural, Erythrocyte indices, Hereditary xerocytosis, Amino acid substitution, Hematology, Jaundice, Neonatal, Pedigree, 030104 developmental biology, Phenotype, Amino Acid Substitution, Female, business
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9
المؤلفون: Georgios E Christakopoulos, Katie Giger Seu, Mary Risinger, Harry Lesmana, Hatice Duzkale, Neha Dagaonkar, Theodosia A. Kalfa, Kejian Zhang
المصدر: Blood. 128:4746-4746
مصطلحات موضوعية: Hemoglobin electrophoresis, Massive parallel sequencing, Anemia, business.industry, Immunology, Cell Biology, Hematology, medicine.disease, Biochemistry, Molecular biology, Hemolysis, Hereditary spherocytosis, 03 medical and health sciences, 0302 clinical medicine, Membrane protein, 030220 oncology & carcinogenesis, medicine, business, Stomatocytosis, 030215 immunology, Pyruvate kinase deficiency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::152c89cd6a534c0fb0e26161022356b4
https://doi.org/10.1182/blood.v128.22.4746.4746 -
10
المؤلفون: Neha Dagaonkar, Kejian Zhang, Satheesh Chonat, Diamantis G. Konstantinidis, Jie Liu, Georgios E Christakopoulos, Clinton H. Joiner, Mary Risinger, Katie Giger Seu, Charles T. Quinn, Theodosia A. Kalfa
المصدر: Blood. 128:2446-2446
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Immunology, Inflammation, Cell Biology, Hematology, medicine.disease, Biochemistry, Phenotype, Sickle cell anemia, Pathogenesis, medicine.anatomical_structure, Endocrinology, Reticulocyte, Internal medicine, Left shift, ATP2B4, medicine, CYBB, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3b7bf60b6cbb1965a21c2a8157f0812f
https://doi.org/10.1182/blood.v128.22.2446.2446