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المؤلفون: Meenakshi Sambharia, Margaret E. Freese, Francisco Donato, Girish Bathla, Ibrahim M.M. Abukhiran, Maisie I. Dantuma, M. Adela Mansilla, Christie P. Thomas
المصدر: Nephron. :1-9
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a25f30dd35c6939354b1103a3b71b933
https://doi.org/10.1159/000527991 -
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المؤلفون: Meenakshi Sambharia, Jyothsna Gattineni, Lama Noureddine, M. Adela Mansilla, Christie P. Thomas
المصدر: Journal of Nephrology. 35:1737-1742
مصطلحات موضوعية: Nephrology, Pseudohypoaldosteronism, Hypertension, Microfilament Proteins, Humans, Hyperkalemia, Adaptor Proteins, Signal Transducing
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المؤلفون: Masaaki Yamada, Richard J.H. Smith, Prerna Rastogi, Sarat Kuppachi, M. Adela Mansilla, Dilek Ince, Abdullah Thayyil, Christie P. Thomas
المصدر: Transplantation Proceedings
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Apolipoprotein L1, Nephrosis, Pneumonia, Viral, Context (language use), 030230 surgery, Article, podocytopathy, Nephropathy, Betacoronavirus, Immunocompromised Host, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Minimal change disease, APOL1, Pandemics, Kidney transplantation, Transplantation, Kidney, biology, SARS-CoV-2, business.industry, Nephrosis, Lipoid, COVID-19, Middle Aged, medicine.disease, Kidney Transplantation, minimal change disease, medicine.anatomical_structure, biology.protein, Female, 030211 gastroenterology & hepatology, Surgery, Coronavirus Infections, business, Nephrotic syndrome
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المؤلفون: Richard J.H. Smith, M. Adela Mansilla, Anne E. Kwitek, Mycah J Kimble, Christie P. Thomas, Colleen A. Campbell, Carla Nishimura, Margaret E. Freese, Ramakrishna Sompallae
المصدر: Nephrology Dialysis Transplantation
مصطلحات موضوعية: Male, 0301 basic medicine, 030232 urology & nephrology, Disease, Ciliopathies, 0302 clinical medicine, Copy-number variation, Child, Aged, 80 and over, Massive parallel sequencing, medicine.diagnostic_test, massively parallel sequencing, genetic kidney disease, High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, Nephrology, Child, Preschool, Female, Kidney Diseases, Adult, medicine.medical_specialty, targeted gene panel, Adolescent, DNA Copy Number Variations, Context (language use), Young Adult, 03 medical and health sciences, Clinical Research, Internal medicine, medicine, Humans, Genetic Testing, AcademicSubjects/MED00340, Aged, Genetic testing, Transplantation, business.industry, Infant, Newborn, Infant, Reproducibility of Results, medicine.disease, 030104 developmental biology, Mutation, ORIGINAL ARTICLES, business, Tubulointerstitial Disease, Biomarkers, copy number variants, Kidney disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2af2c67b0e655d30b89dda624e604517
https://doi.org/10.1093/ndt/gfz173 -
5دورية أكاديمية
المؤلفون: Adam P Ross, M Adela Mansilla, Youngshik Choe, Simon Helminski, Richard Sturm, Roy L Maute, Scott R May, Kamil K Hozyasz, Piotr Wójcicki, Adrianna Mostowska, Beth Davidson, Iannis E Adamopoulos, Samuel J Pleasure, Jeffrey C Murray, Konstantinos S Zarbalis
المصدر: PLoS ONE, Vol 8, Iss 7, p e69333 (2013)
وصف الملف: electronic resource
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المؤلفون: Alissa M. Hulstrand, Jeffrey C. Murray, J. Robert Manak, Robert A. Cornell, Lisa A. Lansdon, Douglas W. Houston, Abby Long, Rachel B. Brouillette, M. Adela Mansilla, Aline Petrin, Benjamin W. Darbro, Jennifer Standley
المصدر: Genetics. 208:283-296
مصطلحات موضوعية: 0301 basic medicine, Genetics, Candidate gene, Synexpression, Locus (genetics), 030105 genetics & heredity, Biology, 03 medical and health sciences, 030104 developmental biology, Copy-number variation, Craniofacial, Haploinsufficiency, Gene, Comparative genomic hybridization
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المؤلفون: Sara O. Mason, Colleen A. Campbell, Diana L. Kolbe, Charuta Joshi, Richard J.H. Smith, M. Adela Mansilla
المصدر: Brain and Development. 38:848-851
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Genotyping Techniques, medicine.medical_treatment, Biology, Bioinformatics, Diagnosis, Differential, 03 medical and health sciences, Epilepsy, Familial case, 0302 clinical medicine, Developmental Neuroscience, Internal medicine, medicine, Humans, Exome sequencing, Genetic testing, medicine.diagnostic_test, Siblings, Epileptic encephalopathy, Phosphatidyl inositol, Infant, Membrane Proteins, General Medicine, medicine.disease, Pedigree, Treatment Outcome, 030104 developmental biology, Endocrinology, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), Differential diagnosis, Diet, Ketogenic, 030217 neurology & neurosurgery, Ketogenic diet
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المؤلفون: M. Adela Mansilla, Sara O. Mason, Colleen A. Campbell, Charuta Joshi, Diana L. Kolbe, Richard J.H. Smith
المصدر: BioMed Research International, Vol 2016 (2016)
BioMed Research Internationalمصطلحات موضوعية: Male, 0301 basic medicine, lcsh:Medicine, Bioinformatics, Epilepsy, 0302 clinical medicine, Exome, Age of Onset, Medical diagnosis, Child, health care economics and organizations, Exome sequencing, Reimbursement, Brain Diseases, medicine.diagnostic_test, Genomics, Health Care Costs, General Medicine, Phenotype, Child, Preschool, Female, Research Article, medicine.medical_specialty, Genotype, Article Subject, General Biochemistry, Genetics and Molecular Biology, Time-to-Treatment, 03 medical and health sciences, medicine, Humans, Genetic Testing, Intensive care medicine, Genetic testing, Insurance, Health, General Immunology and Microbiology, Diagnostic Tests, Routine, Medicaid, business.industry, lcsh:R, Infant, Sequence Analysis, DNA, medicine.disease, United States, 030104 developmental biology, Age of onset, business, 030217 neurology & neurosurgery
وصف الملف: text/xhtml
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المؤلفون: Lisa A, Lansdon, Benjamin W, Darbro, Aline L, Petrin, Alissa M, Hulstrand, Jennifer M, Standley, Rachel B, Brouillette, Abby, Long, M Adela, Mansilla, Robert A, Cornell, Jeffrey C, Murray, Douglas W, Houston, J Robert, Manak
المصدر: Genetics. 208(1)
مصطلحات موضوعية: Comparative Genomic Hybridization, DNA Copy Number Variations, Cleft Lip, Organogenesis, Quantitative Trait Loci, Haploinsufficiency, Investigations, Cleft Palate, Craniofacial Abnormalities, Case-Control Studies, Morphogenesis, Humans, CRISPR-Cas Systems, Thrombospondins, Gene Deletion
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10دورية أكاديمية
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