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المؤلفون: George P. Choursos, W. L. Boson, Luciene Mota Andrade, Emma Carson, Orit Jakbovitz, Vania F. Amaral, Constantine A. Stratakis, Magnus Nordenskjöld, Luiz DeMarco, Eitan Friedman, Juliane L. Rocha
المصدر: Human Genetics. 98:185-188
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Gs alpha subunit, Context (language use), Biology, Endocrine System Diseases, medicine.disease_cause, Polymerase Chain Reaction, Heart Neoplasms, Neoplasms, Multiple Primary, GTP-Binding Proteins, Internal medicine, GTP-Binding Protein alpha Subunits, Gs, Genetics, medicine, Humans, Missense mutation, cardiovascular diseases, Gene, Carney complex, Genetics (clinical), Aged, G alpha subunit, Lentigo, Mutation, DNA, Exons, Syndrome, Middle Aged, medicine.disease, Molecular medicine, Endocrinology, cardiovascular system, Cancer research, Female, Myxoma, Neurilemmoma
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المؤلفون: De-Marco L, Moreira Ac, Liberman B, Juliane L. Rocha, Silva Bc, Friedman E
المصدر: Brazilian Journal of Medical and Biological Research, Vol 30, Iss 4, p 443 (1997)
مصطلحات موضوعية: Receptors, Vasopressin, Vasopressin, Arginine, vasopressin, Physiology, receptor, Immunology, Biophysics, Diabetes Insipidus, Nephrogenic, Biology, Biochemistry, polymorphism, Exon, medicine, Humans, Coding region, General Pharmacology, Toxicology and Pharmaceutics, Receptor, lcsh:QH301-705.5, Gene, chemistry.chemical_classification, Genetics, lcsh:R5-920, Polymorphism, Genetic, General Neuroscience, Cell Biology, General Medicine, Nephrogenic diabetes insipidus, medicine.disease, receptor gene polymorphism, Amino acid, lcsh:Biology (General), chemistry, diabetes insipidus, lcsh:Medicine (General)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdf036724b13c94d891c63556475168b
https://doi.org/10.1590/s0100-879x1997000400002 -
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المؤلفون: Sidney Santos, Akinobu Gotoh, Sadao Kamidono, Sérgio D.J. Pena, Toshiro Shirakawa, Claudia M.B. Carvalho, Juliane L. Rocha, Masato Fujisawa, Fabrício R. Santos, Tatiana Freitas Paulo
المصدر: American journal of medical genetics. Part A. (2)
مصطلحات موضوعية: Genetics, Azoospermia, Male, Azoospermia factor, Chromosomes, Human, Y, Polymorphism, Genetic, Human Y-chromosome DNA haplogroup, Haplotype, DNA Mutational Analysis, DNA, Biology, medicine.disease, Y chromosome, Haplogroup, Male infertility, Haplotypes, Japan, Oligospermia, Mutation, medicine, Humans, Chromosome Deletion, Genetics (clinical), Infertility, Male, Microsatellite Repeats
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09c562cc8ca5935ce746137d8fdb5e26
https://pubmed.ncbi.nlm.nih.gov/12494434 -
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المؤلفون: W. L. Boson, Juliane L. Rocha, Eitan Friedman, Luiz De Marco
المصدر: Arquivos Brasileiros de Endocrinologia & Metabologia v.44 n.4 2000
Arquivos Brasileiros de Endocrinologia & Metabologia
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Arquivos Brasileiros de Endocrinologia & Metabologia, Volume: 44, Issue: 4, Pages: 290-299, Published: AUG 2000مصطلحات موضوعية: Vasopressin, medicine.medical_specialty, Nephrogenic diabetes insipidus, Endocrinology, Diabetes and Metabolism, urologic and male genital diseases, Internal medicine, Arginine vasopressin receptor 2, Vasopressina, Medicine, Receptor, Mutação, Kidney, Aquaporina, urogenital system, business.industry, Reabsorption, Aquaporin, General Medicine, medicine.disease, Diabetes insipidus nefrogênico, medicine.anatomical_structure, Endocrinology, Aquaporin 2, Mutation, business, Antidiuretic
وصف الملف: text/html
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f5c584c0066dbdc21fc23b357362ae
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302000000400004 -
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المؤلفون: Eitan Friedman, Márcia Khaled Punãles, Luiz Alkimin de Lacerda, Hans Graf, Juliane L. Rocha, Bernardo Liberman, Bonald C. Figueiredo, Romulo Sandrini, Luiz De Marco, Ayrton Moreira, W. L. Boson, Sonia Martins
المصدر: Human Mutation. 14:233
مصطلحات موضوعية: Adult, Male, Receptors, Vasopressin, Adolescent, DNA Mutational Analysis, Diabetes Insipidus, Nephrogenic, Biology, Aquaporins, Polymerase Chain Reaction, Frameshift mutation, Germline mutation, medicine, Genetics, Missense mutation, Humans, Child, Gene, Genetics (clinical), Sweden, Aquaporin 2, Polymorphism, Genetic, Genetic heterogeneity, Structural gene, Infant, Sequence Analysis, DNA, Nephrogenic diabetes insipidus, medicine.disease, Aquaporin 6, Pedigree, Arginine Vasopressin, Mutation, Electrophoresis, Polyacrylamide Gel, Female, Brazil
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd64a6f148a1da1a18e15e6e92300224
https://doi.org/10.1002/(sici)1098-1004(1999)14:3<233::aid-humu6>3.3.co;2-f