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المؤلفون: Diego Alvarez Ballano, Pablo Trincado Aznar, María Martínez García, María Elena López Alaminos, Karol Almendra Alvarado Rosas
المصدر: Endocrinología, Diabetes y Nutrición. 67:611-612
مصطلحات موضوعية: medicine.medical_specialty, Nutrition and Dietetics, business.industry, Endocrinology, Diabetes and Metabolism, Insulin, medicine.medical_treatment, medicine.disease, Endocrinology, Text mining, Diabetes mellitus, Internal medicine, New mutation, medicine, business, Receptor, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe287b1cea4d30d61e810c2f82f8e53fTest
https://doi.org/10.1016/j.endinu.2019.11.008Test -
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المؤلفون: Ana Peña Cabia, Enrique Prada de Medio, Sandra Serrano Martínez, Mubarack Alramadan, Ana María Cerezo Arillo, María Luisa Giménez Alarcón
المصدر: Revista del Laboratorio Clínico. 9:173-176
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, business.industry, Biochemistry (medical), Clinical Biochemistry, Thyroid, Genetic disorder, 030209 endocrinology & metabolism, medicine.disease, Thyroid hormone receptor beta, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Endocrinology, Free thyroxin, Internal medicine, New mutation, medicine, 030212 general & internal medicine, business, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6bee7197665e0e5e3763170b1ac6db07Test
https://doi.org/10.1016/j.labcli.2016.06.001Test -
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المؤلفون: P. Joly, Dominique Plantaz, S. Collardeau-Frachon, D. Adjaoud, N. Thomassin, C. Barro, D. Ben Fredj
المساهمون: Laboratoire d'Hématologie, CHU Grenoble, Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)
المصدر: Arch. Pediatr.
Arch. Pediatr., 2019, 26 (6), pp.370--373. ⟨10.1016/j.arcped.2019.05.005⟩مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, [SDV]Life Sciences [q-bio], Dehydrogenase, macromolecular substances, Gene mutation, Glucosephosphate Dehydrogenase, Pediatrics, Hemolysis, 03 medical and health sciences, g6pd mutations, 0302 clinical medicine, Cholestasis, 030225 pediatrics, Internal medicine, hemic and lymphatic diseases, G6PD deficiency, parasitic diseases, medicine, Hepatic Insufficiency, Humans, Neonatal cholestasis, Hyperbilirubinemia, Liver injury, business.industry, New mutation, Infant, Newborn, Liver insufficiency, nutritional and metabolic diseases, medicine.disease, 3. Good health, Endocrinology, Glucosephosphate Dehydrogenase Deficiency, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, business, Glucose-6-phosphate dehydrogenase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0bf9855aceec81cfce56b5a94fdcbeaTest
https://hal.archives-ouvertes.fr/hal-02466189Test -
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المؤلفون: Maciej Kurpisz, Agnieszka Malcher, Stanisław Malinger, Karolina Drabek, Marzena Maciejewska-Jeske, Anna Kostrzak, Anna Szeliga, Blazej Meczekalski, Gregory Bala, Adam Czyzyk, Agnieszka Podfigurna, Karolina Broda, Patrycja Rojewska-Madziala
المصدر: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology. 35(4)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mutation, Missense, 030209 endocrinology & metabolism, urologic and male genital diseases, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, MORRIS SYNDROME, Humans, Disorders of sex development, Gene, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics and Gynecology, Androgen-Insensitivity Syndrome, medicine.disease, Androgen receptor, Receptors, Androgen, New mutation, Androgen insensitivity syndrome, Female, business, Congenital disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5881166e2c71750e6a0ee5eb5a317105Test
https://pubmed.ncbi.nlm.nih.gov/30449224Test -
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المؤلفون: Alejandra Camacho-Molina, Marisol Molina-Medina, Yerye Gibrán Mayén Lobo, José de Jesús Flores-Rivera, Katiuzka Casares-Cruz, Nancy Monroy Jaramillo
المصدر: Molecular Genetics and Metabolism. 129:S37
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Multiple sclerosis, medicine.disease, Biochemistry, Fabry disease, Endocrinology, New mutation, Genetics, medicine, Differential diagnosis, business, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::56cc8838b31fa16d585cfd2a3ef01eceTest
https://doi.org/10.1016/j.ymgme.2019.11.071Test -
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المؤلفون: W SpauldingStephen
المصدر: Clinical Thyroidology. 27:187-189
مصطلحات موضوعية: Thyroid hormone receptor beta, Thyroid Hormone Receptor Alpha Gene, medicine.medical_specialty, Endocrinology, business.industry, Internal medicine, New mutation, medicine, Cancer research, General Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::652167ef3d90c4f354ce6d33e0129526Test
https://doi.org/10.1089/ct.2015;27.187-189Test -
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المؤلفون: Jose C. Nuñez, Charles Marques Lourenço, Vanessa Daccach Marques, Wilson Marques, R F Herrera, Daisy I. Cabrini, Carolina Lavigne Moreira
المصدر: Journal of the Peripheral Nervous System. 20:60-62
مصطلحات موضوعية: medicine.medical_specialty, biology, business.industry, General Neuroscience, MEDLINE, Late onset, Bioinformatics, Transthyretin, Text mining, Endocrinology, Internal medicine, New mutation, biology.protein, medicine, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9d4bb938547d883216091616704d278dTest
https://doi.org/10.1111/jns.12112Test -
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المؤلفون: G. Pérez de Nanclares Leal, M. Ubetagoyena Arrieta, R. Areses Trapote, M. Imaz Murguiondo, D. Arruebarrena Lizarraga, L. Castaño González
المصدر: Anales de Pediatría, Vol 74, Iss 1, Pp 47-50 (2011)
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Hyperparathyroidism, Familial hypocalciuric hypercalcemia, endocrine system diseases, business.industry, nutritional and metabolic diseases, medicine.disease, Pediatrics, RJ1-570, Endocrinology, Internal medicine, Calcium-sensing receptor, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), New mutation, medicine, business, hormones, hormone substitutes, and hormone antagonists, High penetrance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6608ae4cc7e8d08278972bb2dae99aTest
https://doi.org/10.1016/j.anpedi.2010.10.001Test -
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المؤلفون: Kalyani Regeti, Kamal Bhusal
المصدر: Endocrine Practice. 24:18
مصطلحات موضوعية: Pheochromocytoma, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, New mutation, medicine, Cancer research, Vhl gene, General Medicine, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6fa6b4f7cfa301050cfb525c171b1c0cTest
https://doi.org/10.1016/s1530-891xTest(20)47033-8 -
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المؤلفون: Vincenzo Belcastro, Salvatore Barca, Mario Barbarini, Isabella Mauro
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 20(1)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Pediatrics, Hyperglycinemia, Hyperglycinemia, Nonketotic, Gene mutation, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Fragmentary myoclonus, Aminomethyltransferase, Humans, Early myoclonic encephalopathy, Genetic testing, medicine.diagnostic_test, business.industry, Infant, Newborn, Electroencephalography, General Medicine, medicine.disease, Tonic spasms, 030104 developmental biology, Endocrinology, Clinical diagnosis, Pediatrics, Perinatology and Child Health, New mutation, Mutation, Neurology (clinical), business, Spasms, Infantile, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95da86ee8a1f83409f6e20687f1b5c75Test
https://pubmed.ncbi.nlm.nih.gov/26371980Test