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المؤلفون: Dasom Park, Juyoung Lee, Woori Jang, Su Jin Kim
المصدر: Children
Children, Vol 8, Iss 1090, p 1090 (2021)مصطلحات موضوعية: medicine.medical_specialty, Microarray, hyponatremia, Case Report, Pediatrics, RJ1-570, mineralocorticoid receptors, Mineralocorticoid receptor, Polyuria, Internal medicine, Medicine, Exome sequencing, business.industry, Pseudohypoaldosteronism, nutritional and metabolic diseases, pseudohypoaldosteronism, dehydration, NR3C2 gene, medicine.disease, hyperkalemia, Endocrinology, Pediatrics, Perinatology and Child Health, Failure to thrive, medicine.symptom, neonate, business, Hyponatremia, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40dcc7f7c00b37955a9748e5d95b3f70Test
http://europepmc.org/articles/PMC8700017Test -
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المؤلفون: Hans J. Grabe, Sandra Van der Auwera, Jan Terock, Katharina Wittfeld, Deborah Janowitz, Alexander Teumer
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine 8(9), e1345 (2020). doi:10.1002/mgg3.1345مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, rs2070951, 030105 genetics & heredity, Verbal learning, Polymorphism, Single Nucleotide, 03 medical and health sciences, genetics [Receptors, Mineralocorticoid], Memory, Internal medicine, Genotype, Genetics, Humans, Medicine, Cognitive Dysfunction, ddc:610, Cognitive decline, Allele, Molecular Biology, Genetics (clinical), Aged, mineralocorticoid receptor, Recall, business.industry, Haplotype, genetics [Cognitive Dysfunction], rs5522, Original Articles, NR3C2 gene, Middle Aged, cognitive decline, lcsh:Genetics, Receptors, Mineralocorticoid, 030104 developmental biology, Endocrinology, Haplotypes, Study of Health in Pomerania, Population study, Original Article, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142834cad776dffb658e00aa40052a81Test
https://doi.org/10.1002/mgg3.1345Test -
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المؤلفون: Federico Baronio, Antonio Balsamo, Soara Menabo, Wolfgang G. Sippell, Felix G. Riepe, Monia Gennari, Alessandro Cicognani
المساهمون: A.Balsamo, A.Cicognani, M.Gennari, W.G.Sippell, S.Menabò, F.Baronio, F.G.Riepe
المصدر: European Journal of Endocrinology. 156:249-256
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hydrocortisone, Pseudohypoaldosteronism, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Population, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Transactivation, Endocrinology, Gene Frequency, PSEUDOHYPOALDOSTERONISM TYPE 1, Internal medicine, medicine, Humans, NR3C2 Gene, SNP, Frameshift Mutation, education, Aldosterone, Gene, FUNCTIONAL STUDIES, Genetics, Mutation, education.field_of_study, HMR POLYMORPHISMS, General Medicine, NR3C2 GENE MUTATIONS, medicine.disease, Pedigree, Receptors, Mineralocorticoid, Italy, Codon, Nonsense, Child, Preschool, Protein Biosynthesis, Female
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2148f645bf63f6521bf8feabcefdc0b8Test
https://doi.org/10.1530/eje.1.02330Test -
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المؤلفون: Yoon Kyoung Park, Hyo Kyoung Nam, Myung Hyun Nam, Young Jun Rhie, Hyun Ah Jeong, Kee Hyoung Lee, Yeong Sang Jung
المصدر: Annals of Pediatric Endocrinology & Metabolism
Annals of Pediatric Endocrinology & Metabolism, Vol 20, Iss 4, Pp 230-234 (2015)مصطلحات موضوعية: Epithelial sodium channel, medicine.medical_specialty, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Pseudohypoaldosteronism, Mineralocorticoid receptors, Case Report, Mineralocorticoid receptor, Internal medicine, medicine, G alpha subunit, Kidney, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, Metabolic acidosis, NR3C2 gene, medicine.disease, Endocrinology, medicine.anatomical_structure, Mineralocorticoid, Pediatrics, Perinatology and Child Health, Failure to thrive, Hyperkalemia, medicine.symptom, business, Hyponatremia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::683513509e220115135a9c524810b341Test
https://pubmed.ncbi.nlm.nih.gov/26817011Test -
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المؤلفون: Paul-Martin Holterhus, Felix G. Riepe
المصدر: American Journal of Nephrology. 27:164-169
مصطلحات موضوعية: Male, Epithelial sodium channel, medicine.medical_specialty, Candidate gene, Pseudohypoaldosteronism, Protein Serine-Threonine Kinases, Gene mutation, Biology, Immediate-Early Proteins, Mineralocorticoid receptor, Internal medicine, medicine, Humans, NR3C2 Gene, Polymorphism, Genetic, Renal sodium reabsorption, urogenital system, Genetic heterogeneity, Sodium, Infant, Newborn, Infant, Sequence Analysis, DNA, medicine.disease, Endocrinology, Nephrology, Child, Preschool, Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69cab039c818f55b5f20fd8404d5064cTest
https://doi.org/10.1159/000100107Test -
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المؤلفون: Silvia Einaudi, Géza Fejes-Tóth, A Testa, Michael Peter, Joachim Grötzinger, Nils Krone, Johannes Finkeldei, Wolfgang G. Sippell, Beate Karges, Felix G. Riepe, Matthias Viemann, Luisa De Sanctis
المصدر: The Journal of Clinical Endocrinology & Metabolism. 91:4552-4561
مصطلحات موضوعية: Male, Models, Molecular, Transcriptional Activation, medicine.medical_specialty, Pseudohypoaldosteronism, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Molecular Sequence Data, Clinical Biochemistry, Mutant, Gene Expression, Context (language use), Biology, Transfection, medicine.disease_cause, Biochemistry, Protein Structure, Secondary, Frameshift mutation, Mice, Imaging, Three-Dimensional, Endocrinology, Mineralocorticoid receptor, Internal medicine, medicine, Animals, Humans, NR3C2 Gene, Tissue Distribution, Amino Acid Sequence, Child, Cells, Cultured, Genetics, Mutation, Sequence Homology, Amino Acid, Biochemistry (medical), medicine.disease, Phenotype, Pedigree, Protein Transport, Receptors, Mineralocorticoid, Child, Preschool, Female, Mutant Proteins, Rabbits
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8273b032ce0cd482f15c5affa49621dfTest
https://doi.org/10.1210/jc.2006-1161Test -
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المؤلفون: Yun Hye Jung, Se Eun Lee, Hae Il Cheong, Hyun Kyung Lee, Yong Choi, Hee Gyung Kang, Kyoung Hee Han, Il Soo Ha
المصدر: Korean Journal of Pediatrics
Korean Journal of Pediatrics, Vol 54, Iss 2, Pp 90-93 (2011)مصطلحات موضوعية: medicine.medical_specialty, Hyperkalemia, medicine.drug_class, Pseudohypoaldosteronism, Case Report, medicine.disease_cause, Pediatrics, Exon, Mineralocorticoid receptor, Internal medicine, medicine, gene, Mutation, business.industry, lcsh:RJ1-570, Infant, lcsh:Pediatrics, NR3C2 gene, medicine.disease, Endocrinology, Mineralocorticoid, Pediatrics, Perinatology and Child Health, Failure to thrive, medicine.symptom, business, Hyponatremia, Receptor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c24a1d8f1f44ef9cea68e7d3297d97eTest
https://pubmed.ncbi.nlm.nih.gov/21503203Test -
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المؤلفون: Björn Menten, R. Van Coster, H. Verhelst, Patrick Verloo
المصدر: European Journal of Paediatric Neurology. 15:S109
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Multiple sclerosis, Pediatrics, Perinatology and Child Health, medicine, NR3C2 Gene, Neurology (clinical), General Medicine, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2028a4d74c2b2d9d0e8127823f2dcb79Test
https://doi.org/10.1016/s1090-3798Test(11)70378-6