المؤلفون: Thomas Uslar, Roberto Olmos, Alejandro Martínez-Aguayo, René Baudrand

المصدر: Journal of Clinical Medicine; Volume 12; Issue 9; Pages: 3128

مصطلحات موضوعية: congenital adrenal hyperplasia, non-classic CAH, hyperandrogenism, recessive genetic disorder

وصف الملف: application/pdf

العلاقة: Clinical Laboratory Medicine; https://dx.doi.org/10.3390/jcm12093128Test

الإتاحة: https://doi.org/10.3390/jcm12093128Test

المؤلفون: Cristobal Morales, Alejandro Martinez-Aguayo, Mónica Flores, Carolina Mendoza, Helena Poggi

المصدر: Hormone Research in Paediatrics. 94:333-342

مصطلحات موضوعية: Male, Parents, Adolescent, Endocrinology, Diabetes and Metabolism, Population, Affect (psychology), Transgender Persons, Endocrinology, Quality of life, Surveys and Questionnaires, Intervention (counseling), Transgender, Humans, Chile, Child, education, education.field_of_study, Gender nonconforming, Mental health, Cross-Sectional Studies, Pediatrics, Perinatology and Child Health, Quality of Life, Female, Psychology, Psychosocial, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd385167ddfed3fe7b3c807f5c2c7a05Test
https://doi.org/10.1159/000520606Test

المؤلفون: Helen Spoudeas, Sanner Jrf, Jane A. Hurst, Le Quesne Stabej P, Mehul T. Dattani, Alejandro Martinez-Aguayo, Pratik Shah, Monica Arancibia, Carolina Loureiro, Hywel Williams, Wendy D Jones, Louise C. Gregory, Louise Ocaka

المصدر: The Journal of Clinical Endocrinology & Metabolism. 104:5737-5750

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Pathology, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Hypothalamus, Neural Cell Adhesion Molecule L1, Context (language use), 030105 genetics & heredity, Biochemistry, Hypopituitarism, Growth hormone deficiency, 03 medical and health sciences, Endocrinology, Internal medicine, Exome Sequencing, medicine, Humans, Diencephalon, Child, L1 syndrome, Clinical Research Articles, Exome sequencing, Arthrogryposis, business.industry, Biochemistry (medical), Infant, Newborn, Macrocephaly, Infant, Proteins, Genetic Diseases, X-Linked, medicine.disease, Rathke's pouch, Pedigree, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Diabetes insipidus, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efc31a45e00d438a3232068bbdc025ddTest
https://doi.org/10.1210/jc.2019-00631Test

المؤلفون: Carolina Loureiro, Alejandro Martínez-Aguayo, Carmen Campino, Cristián Carvajal, Carlos Fardella, Hernán García

المصدر: Nutrición Hospitalaria, Vol 29, Iss 2, Pp 350-358 (2014)

مصطلحات موضوعية: Hígado graso no alcohólico, Esteatohepatitis no alcohólica, Alanino amino transferasa, Insulino resistencia, Diabetes mellitus 2, Nutritional diseases. Deficiency diseases, RC620-627

العلاقة: http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0212-16112014000200015&lng=en&tlng=enTest; https://doaj.org/toc/0212-1611Test; https://doaj.org/article/80943634a2dd4916b4403bd1a8aa0223Test

الإتاحة: https://doi.org/10.3305/nh.2014.29.2.7098Test
https://doaj.org/article/80943634a2dd4916b4403bd1a8aa0223Test

المؤلفون: Carlos E. Fardella B., Dr., Cristian A. Carvajal, Dr., Carmen Campino, Dra., Alejandra Tapia, Dra., Hernán García, Dr., Alejandro Martínez-Aguayo, Dr.

المصدر: Revista Médica Clínica Las Condes, Vol 24, Iss 5, Pp 790-796 (2013)

مصطلحات موضوعية: Hipertensión arterial mineralocorticoidea, hipera-aldosteronismo primario, aldosterona, hipertensión secundaria, Medicine

العلاقة: http://www.sciencedirect.com/science/article/pii/S0716864013702256Test; https://doaj.org/toc/0716-8640Test; https://doaj.org/article/217562b7e06a4e06895af49a440796c1Test

الإتاحة: https://doi.org/10.1016/S0716-8640Test(13)70225-6
https://doaj.org/article/217562b7e06a4e06895af49a440796c1Test

المؤلفون: Carlos E. Fardella, Sofia Sifaqui, Maria Rodriguez-Fernandez, Ivonne D'Apremont, Hernan Garcia, Rene Baudrand, Rosario Moore, Claudia Trincado, Jose Tomas Ossa, Fidel Allende, Monica Arancibia, Sandra Solari, Carmen Campino, Helena Poggi, Alejandro Martinez-Aguayo, Cristian A. Carvajal, Soledad Peredo

المصدر: Journal of hypertension. 38(4)

مصطلحات موضوعية: Male, medicine.medical_specialty, Physiology, Urinary system, Potassium, chemistry.chemical_element, Blood Pressure, Urine, 030204 cardiovascular system & hematology, Plasma renin activity, Renin-Angiotensin System, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Renin, Internal Medicine, Medicine, Humans, 030212 general & internal medicine, Child, Aldosterone, business.industry, Sodium, Gestational age, Nomogram, Healthy Volunteers, Blood pressure, Endocrinology, chemistry, Child, Preschool, Female, Cardiology and Cardiovascular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15be9831499b90607e9043cca7555bf3Test
https://pubmed.ncbi.nlm.nih.gov/31790052Test

المؤلفون: Carolina Fuentes, Alejandro Martinez-Aguayo, Monica Arancibia Cabalá

المصدر: Revista chilena de pediatría v.90 n.4 2019
SciELO Chile
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf41341ef160ab2c767d91f88fced4c5Test
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062019000400373Test

المؤلفون: Manouk van der Steen, Anita C. S. Hokken-Koelega, Ricardo Uauy, Alejandro Martinez-Aguayo, Verónica Mericq, Germán Iñiguez

المساهمون: Pediatrics

المصدر: Nature Reviews Endocrinology, 13(1), 50-62. Nature Publishing Group

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Gestational Age, Disease, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Metabolic Diseases, Pregnancy, Risk Factors, 030225 pediatrics, medicine, Endocrine system, Humans, Child, Obstetrics, business.industry, Infant, Newborn, Type 2 Diabetes Mellitus, Gestational age, medicine.disease, Premature birth, Small for gestational age, Premature Birth, Female, Metabolic syndrome, business, Infant, Premature

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcfd52553362fdc38159ab0c2e165f14Test
https://doi.org/10.1038/nrendo.2016.127Test

المؤلفون: Filomena Marino Carvalho, Catherine E. Keegan, Luciani R. Carvalho, Hayk Barseghyan, Rod T. Mitchell, Leila Cristina Pedroso de Paula, Regina Papazian, Eric Vilain, Thatiana Evilen da Silva, Eduardo Corrêa Costa, Elaine Maria Frade Costa, Felipe Martins Elias, Sorahia Domenice, Nathalia Lisboa Gomes, Mirian Y. Nishi, Alexander A. L. Jorge, Berenice B. Mendonca, Alejandro Martinez-Aguayo, Maria Veronica Forclaz, Antonio M. Lerario

المصدر: Evilen Da Silva, T, Gomes, N L, Lerário, A M, Keegan, C E, Nishi, M Y, Carvalho, F M, Vilain, E, Barseghyanm, H, Martinez-aguayo, A, Forclaz, M V, Papazian, R, Pedroso De Paula, L C, Costa, E C, Carvalho, L R, Jorge, A A, Elias, F, Mitchell, R, Frade Costa, E M, Mendonca, B B & Domenice, S 2019, ' Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum ', Journal of Clinical Endocrinology & Metabolism . https://doi.org/10.1210/jc.2019-00984Test

مصطلحات موضوعية: Male, medicine.medical_specialty, Heterozygote, Sex Differentiation, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mutation, Missense, Context (language use), Biology, Biochemistry, Genome, XY gonadal dysgenesis, Endocrinology, Internal medicine, Testis, Exome Sequencing, medicine, Missense mutation, Humans, Disorders of sex development, Gene, Genetics, Disorder of Sex Development, 46,XY, Biochemistry (medical), Infant, medicine.disease, Child, Preschool, Etiology, Immunohistochemistry, Female, RNA Helicases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc0e74f845bd52fbf150f50d266351dTest
https://pubmed.ncbi.nlm.nih.gov/31287541Test

المؤلفون: Gonzalo Dominguez-Menendez, Monica Arancibia, Helena Poggi Mayorga, Felipe Benavides, Alejandro Martinez-Aguayo

المصدر: Growth hormoneIGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Mutation, Missense, 030209 endocrinology & metabolism, Context (language use), Biology, medicine.disease_cause, Short stature, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Missense mutation, Humans, Multiplex ligation-dependent probe amplification, Allele, Glycoproteins, Sequence Deletion, Mutation, Amyotrophic Lateral Sclerosis, Exons, Pedigree, 030104 developmental biology, Female, medicine.symptom, Carrier Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d3678f0944bde613ef713d9b377d117Test
https://pubmed.ncbi.nlm.nih.gov/31419723Test