المؤلفون: Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade, B. Jeanne Billioux, Brooke Meader, Rita Volochayev, Chamindra G. Konersman, Angela M. Kaindl, Chie-Hee Cho, Bianca Russell, Adrian Rodriguez, K. Wade Foster, A. Reghan Foley, Steven A. Moore, Peter L. Jones, Carsten G. Bonnemann, Takako Jones, Natalie D. Shaw

المصدر: Neurology. 98:e1384-e1396

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cf709b5af4a47797ec6393c630f9f4b3
https://doi.org/10.1212/wnl.0000000000200032

المؤلفون: Richard Quinton, Brooke Meader, Katie L. Lewis, Janet E. Hall, Corrine K. Welt, Joan E. Bailey-Wilson, Leslie G. Biesecker, Alessandro Albano, Christopher A. Lavender, Natalie Shaw, Angela Delaney, Verónica Mericq, Paulina M. Merino, Stephanie B. Seminara, Adam B. Burkholder, Lacey Plummer, Kathryn A. Martin

المصدر: J Clin Endocrinol Metab

مصطلحات موضوعية: Adult, 0301 basic medicine, Isolated hypogonadotropic hypogonadism, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Mutation, Missense, 030209 endocrinology & metabolism, Context (language use), Biochemistry, Gonadotropin-Releasing Hormone, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Gene Frequency, Hypogonadotropic hypogonadism, Internal medicine, Exome Sequencing, Humans, Medicine, Genetic Predisposition to Disease, Allele, Online Only Articles, Child, Amenorrhea, Gene, Genetic Association Studies, Exome sequencing, Aged, Sequence (medicine), business.industry, Hypogonadism, Biochemistry (medical), Kallmann Syndrome, Middle Aged, Heritability, medicine.disease, 030104 developmental biology, Case-Control Studies, Female, business, Hypothalamic Diseases, Metabolic Networks and Pathways

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4abe6f45a8b6d00cda1d49468209b2d
https://doi.org/10.1210/clinem/dgaa609

المؤلفون: Alessandro Albano, Hilal Sekizkardes, Angela Delaney, Brooke Meader

المصدر: J Clin Endocrinol Metab

مصطلحات موضوعية: Proband, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, medicine.medical_specialty, DNA Copy Number Variations, Microarray, Ubiquitin-Protein Ligases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Puberty, Precocious, 030209 endocrinology & metabolism, Locus (genetics), Biology, Biochemistry, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Internal medicine, Gene duplication, medicine, Humans, Precocious puberty, Genetic Testing, Copy-number variation, Child, Menarche, Sanger sequencing, Genetics, Clinical Research Article, Calcium-Binding Proteins, Biochemistry (medical), nutritional and metabolic diseases, Infant, Membrane Proteins, medicine.disease, Child, Preschool, 030220 oncology & carcinogenesis, symbols, Genomic imprinting, Prader-Willi Syndrome, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d950b2b4f13153a83d1e784d60c3d16d
https://doi.org/10.1210/clinem/dgaa331

المؤلفون: Payam, Mohassel, Ning, Chang, Kaoru, Inoue, Angela, Delaney, Ying, Hu, Sandra, Donkervoort, Dimah, Saade, B Jeanne, Billioux, Brooke, Meader, Rita, Volochayev, Chamindra G, Konersman, Angela M, Kaindl, Chie-Hee, Cho, Bianca, Russell, Adrian, Rodriguez, K Wade, Foster, A Reghan, Foley, Steven A, Moore, Peter L, Jones, Carsten G, Bonnemann, Takako, Jones, Natalie D, Shaw

المصدر: Neurology

مصطلحات موضوعية: Homeodomain Proteins, Male, Cross-Sectional Studies, Phenotype, Chromosomal Proteins, Non-Histone, Humans, Female, Muscular Dystrophy, Facioscapulohumeral, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c16a40b2753713846647a63e7df565cf
https://pubmed.ncbi.nlm.nih.gov/35121673

المؤلفون: Rolando Prada, Tatiana Pineda Buitrago, Cristiano Tonello, Hallvard Reigstad, Rameshwar Prasad, Jennifer Henkind, Brooke Meader, Natalie D. Shaw, Susan Kim, Bianca E Russell, Janice Lee, John M. Graham, Gazal Arora, Kathleen A. Williamson, Nancy Mizue Kokitsu-Nakata, Ravikumar Balasubramanian, Rita Volochayev, Yline Capri, Stephanie B. Seminara, Kaoru Inoue, Jennifer R. Law, Germaine Y Noukelak, Orlando Perez, Andrew A. Dwyer, Laura J. Chalmers, Uttam Mondal, Angela Delaney, Konstantinia Almpani, Kathryn B Salnikov, Janet E. Hall, Roseli Maria Zechi-Ceide, Kosuke Morioka, Katharina Steindl, Chie-Hee Cho, Jose Elias Garcia, Gisele da Silva Dalben, Lacey Plummer, William F. Crowley, Christina Jacobsen, Michiyo Mizota, Angela E. Lin, Angela M. Kaindl, Anita Rauch, Nicole P DiOrio, Scott A. Clements, Siulan Vendramini-Pittoli

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
J Clin Endocrinol Metab

مصطلحات موضوعية: Male, 0301 basic medicine, Olfactory system, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, Cohort Studies, Gonadotropin-Releasing Hormone, Olfaction Disorders, 0302 clinical medicine, Endocrinology, Medicine, Child, Neurons, GnRH Neuron, Clinical Research Article, Reproductive function, FENÓTIPOS, Olfactory Pathways, Organ Size, Middle Aged, Hypothalamus, Child, Preschool, Female, Luteinizing hormone, hormones, hormone substitutes, and hormone antagonists, Adult, endocrine system, medicine.medical_specialty, Adolescent, Neurogenesis, Context (language use), Nose, Young Adult, 03 medical and health sciences, Internal medicine, Humans, Abnormalities, Multiple, Gonads, Aged, Breast development, business.industry, Hypogonadism, Biochemistry (medical), Infant, Luteinizing Hormone, 030104 developmental biology, Follicle Stimulating Hormone, business, 030217 neurology & neurosurgery, Hormone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b852ae097116cf9e5978cc61651807e1

المؤلفون: Angela Delaney, Lacey Plummer, Adam Burkholder, Maria Mericq, Paulina Merino, Richard Quinton, Katie Lewis, Brooke Meader, Natalie Shaw, Corrine Welt, Kathryn Martin, Stephanie Seminara, Leslie Biesecker, Joan Bailey-Wilson, Janet Hall

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Genetics, Text mining, business.industry, Endocrinology, Diabetes and Metabolism, Stressor, Reproductive Endocrinology, Hypothalamic amenorrhea, Reproductive Health Across the Lifespan, Biology, business, Gene, Sequence (medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::531b2f75eb5ec8d8e827f5f1c9c57f4c
https://doi.org/10.1210/js.2019-or11-6

المؤلفون: Angela Delaney, Janet E. Hall, Brooke Meader, Iris R Hartley, Skand Shekhar

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Neuroendocrinology and Pituitary, business.industry, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Internal medicine, Spontaneous recovery, Neuroendocrinology and Pituitary Case Reports, Medicine, Hypothalamic–pituitary–gonadal axis, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10d1e53cc4c53f94e9a88635b026e27
http://europepmc.org/articles/PMC6552760

المؤلفون: Tatiana Pineda Buitrago, Rauch Anita, Katharina Steindl, Brooke Meader, Janet E. Hall, Angela Delaney, Orlando Perez Silva, Hallvard Reigstad, Rameshwar Prasad, Cho Chie-Hee, Natalie Shaw, Nadine Almpani, Laura J. Chalmers, Janice Lee, Jennifer R. Law, Kathryn B Salnikov, Jennifer Henkind, Andrew A. Dwyer, Lacey Plummer, William F. Crowley, John Graham, Angela M. Kaindl, Germaine Y Noukelak, Angela E. Lin, Christina Jacobsen, Kathleen A. Williamson, Stephanie B. Seminara, Scott A. Clements, Loeys Bart, Brian P. Brooks, Nicole P DiOrio, José Elías García-Ortiz, Uttam Mondal, Rita Volochayev, Bianca E Russell, Ravikumar Balasubramanian

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Primary (chemistry), Text mining, Male Reproduction: From Bench to Bedside, business.industry, Endocrinology, Diabetes and Metabolism, Reproductive Endocrinology, Medicine, business, Bioinformatics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58ba9110fa0290eb2f9744e663402a93
https://doi.org/10.1210/js.2019-sun-219