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1
المؤلفون: Anete Sevciovic Grumach, Renan Paulo Martin, Camila Lopes Veronez, Eli Mansour, Marcia Buzolin, Nathália Cagini, João Bosco Pesquero, Rosemeire Navickas Constantino-Silva, Licio A. Velloso
المصدر: Biological Chemistry. 397:337-344
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Clinical Biochemistry, Nonsense mutation, Complement C1 Inactivator Proteins, medicine.disease_cause, Biochemistry, Genetic analysis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, Coding region, Child, Molecular Biology, Gene, Aged, Genetics, Mutation, business.industry, Angioedemas, Hereditary, Middle Aged, medicine.disease, Stop codon, 030104 developmental biology, 030220 oncology & carcinogenesis, Hereditary angioedema, Female, business, Complement C1 Inhibitor Protein, Brazil
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d657700d90b31c877fca72fe6d1ec1a7Test
https://doi.org/10.1515/hsz-2015-0222Test -
2
المؤلفون: Cong-Yi Wang, Andrew Muir, Jing Da Shi, Alba E. Morales, Jin-Xiong She
المصدر: Journal of Pediatric Endocrinology and Metabolism. 17
مصطلحات موضوعية: Male, Heterozygote, endocrine system, medicine.medical_specialty, Time Factors, endocrine system diseases, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, Fertilization in Vitro, Thyrotropin, beta Subunit, Biology, medicine.disease_cause, Compound heterozygosity, Frameshift mutation, Exon, Endocrinology, Hypothyroidism, Internal medicine, Congenital Hypothyroidism, medicine, Central hypothyroidism, Humans, Coding region, Infusions, Intravenous, Thyrotropin-Releasing Hormone, Genetics, Mutation, Newborn screening, Infant, Newborn, Sequence Analysis, DNA, medicine.disease, Congenital hypothyroidism, Thyroxine, Treatment Outcome, Pediatrics, Perinatology and Child Health, hormones, hormone substitutes, and hormone antagonists
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c4d6fee1fda10c0a0467515174a7ffdTest
https://doi.org/10.1515/jpem.2004.17.3.355Test -
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المصدر: Journal of Pediatric Endocrinology and Metabolism. 16
مصطلحات موضوعية: Male, Adolescent, Endocrinology, Diabetes and Metabolism, Population, Biology, medicine.disease_cause, Polymerase Chain Reaction, Short stature, Endocrinology, medicine, Humans, Coding region, Insulin-Like Growth Factor I, Child, Promoter Regions, Genetic, education, Molecular Biology, Gene, Growth Disorders, Polymorphism, Single-Stranded Conformational, Sequence Deletion, Genetics, Mutation, education.field_of_study, Base Sequence, Human Growth Hormone, Nucleic acid sequence, Promoter, Single-strand conformation polymorphism, Molecular biology, Body Height, Pediatrics, Perinatology and Child Health, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bdbeb9aef95754888f42b45ca688845Test
https://doi.org/10.1515/jpem.2003.16.9.1267Test