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1دورية أكاديمية
المؤلفون: Jessica Cassin, Maria I. Stamou, Kimberly W. Keefe, Kaitlin E. Sung, Celine C. Bojo, Karen J. Tonsfeldt, Rebecca A. Rojas, Vanessa Ferreira Lopes, Lacey Plummer, Kathryn B. Salnikov, David L. Keefe Jr., Metin Ozata, Myron Genel, Neoklis A. Georgopoulos, Janet E. Hall, William F. Crowley Jr., Stephanie B. Seminara, Pamela L. Mellon, Ravikumar Balasubramanian
المصدر: JCI Insight, Vol 8, Iss 3 (2023)
مصطلحات موضوعية: Endocrinology, Neuroscience, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2379-3708
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2دورية أكاديمية
المؤلفون: Andrew A. Dwyer, Maria Stamou, Isabella R. McDonald, Ella Anghel, Kimberly H. Cox, Kathryn B. Salnikov, Lacey Plummer, Stephanie B. Seminara, Ravikumar Balasubramanian
المصدر: Frontiers in Endocrinology, Vol 13 (2022)
مصطلحات موضوعية: genetics, reversible hypogonadism, puberty, male infertility, Kallmann syndrome, hypogonadotropic hypogonadism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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المؤلفون: Xinying Wang, Danna Chen, Yaguang Zhao, Meichao Men, Zhiheng Chen, Fang Jiang, Ruizhi Zheng, Maria I Stamou, Lacey Plummer, Ravikumar Balasubramanian, Jia-Da Li
المصدر: Human Molecular Genetics. 32:1722-1729
مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4dbc1b1bc5ba93483ba327a338c07459
https://doi.org/10.1093/hmg/ddad014 -
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المؤلفون: Margaret F. Lippincott, Wanxue Xu, Abigail A. Smith, Xinyu Miao, Agathe Lafont, Omar Shennib, Gordon J. Farley, Riwa Sabbagh, Angela Delaney, Maria Stamou, Lacey Plummer, Kathryn Salnikov, Neoklis A. Georgopoulos, Veronica Mericq, Richard Quinton, Frederic Tran Mau-Them, Sophie Nambot, Asma Hamad, Helen Brittain, Rebecca S. Tooze, Eduardo Calpena, Andrew O.M. Wilkie, Marjolaine Willems, William F. Crowley, Ravikumar Balasubramanian, Nathalie Lamarche-Vane, Erica E. Davis, Stephanie B. Seminara
المصدر: Genetics in Medicine. 24:2501-2515
مصطلحات موضوعية: Gonadotropin-Releasing Hormone, Repressor Proteins, Hypogonadism, GTPase-Activating Proteins, Animals, Humans, Guanine Nucleotide Exchange Factors, Zebrafish, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a3cce5412ed78cc1a00576d2114ea97
https://doi.org/10.1016/j.gim.2022.08.025 -
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المؤلفون: Andrew A Dwyer, Maria I Stamou, Ella Anghel, Shira Hornstein, Danna Chen, Kathryn B Salnikov, Isabella R McDonald, Lacey Plummer, Stephanie B Seminara, Ravikumar Balasubramanian
المصدر: J Clin Endocrinol Metab
مصطلحات موضوعية: Clinical Research Article, Endocrinology, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biochemistry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e643f69edf49ed87ae73625c54db544b
https://doi.org/10.1210/clinem/dgac615 -
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المؤلفون: Paulina M. Merino, Ruslan I. Sadreyev, Stephanie B. Seminara, Lacey Plummer, Angela Delaney, Fei Ji, Verónica Mericq, Richard Quinton, William F. Crowley, Anna A. Kutateladze, Rebecca A. Rojas, David L. Keefe, Katarina Gambosova, Eric Fliers, Ravikumar Balasubramanian, Maria I. Stamou, Janet E. Hall, Kathyrn B. Salnikov
المساهمون: Endocrinology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Genetics in medicine, 23(4), 629-636. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Geneticsمصطلحات موضوعية: Genetics, education.field_of_study, Genotype, SOXE Transcription Factors, Waardenburg syndrome, Kallmann syndrome, Hypogonadism, SOX10, Population, Kallmann Syndrome, Biology, medicine.disease, Article, body regions, Hypogonadotropic hypogonadism, Mutation, embryonic structures, medicine, Humans, Missense mutation, Waardenburg Syndrome, Allele, education, Genetics (clinical), Exome sequencing
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المؤلفون: Ethan Brown, Skand Shekhar, Angela Delaney, Adam B Burkholder, Lacey Plummer, Veronica Mericq, Paulina M Merino, Richard Quinton, Katie L Lewis, Natalie D Shaw, Corrine K Welt, Kathryn A Martin, Stephanie B Seminara, Leslie G Biesecker, Alison Motsinger-Reif, John S House, Janet Hall
المصدر: Journal of the Endocrine Society. 6:A466-A467
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ab9200036879923b4ecf35eaac98f736
https://doi.org/10.1210/jendso/bvac150.970 -
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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 -
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المؤلفون: Maria I Stamou, Harrison Brand, Mei Wang, Isaac Wong, Margaret F Lippincott, Lacey Plummer, William F Crowley, Michael Talkowski, Stephanie Seminara, Ravikumar Balasubramanian
المصدر: J Clin Endocrinol Metab
مصطلحات موضوعية: Clinical Research Article, DNA Copy Number Variations, Endocrinology, Diabetes and Metabolism, Hypogonadism, Biochemistry (medical), Clinical Biochemistry, Kallmann Syndrome, Biochemistry, Endocrinology, Klinefelter Syndrome, Phenotype, Mutation, Prevalence, Point Mutation, Humans, Exome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f62478648df97a27f88e9b70c39a0c2
https://pubmed.ncbi.nlm.nih.gov/35727719 -
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المؤلفون: Irene Valenzuela, Gomathi Margabanthu, Susan Price, Nicholas Katsanis, Ivon Cuscó, Kamal Khan, Erica E. Davis, Yee-Ming Chan, Priscila Sales Barroso, Lacey Plummer, Zachary A. Kupchinsky, Kasper Lage, Blazej Meczekalski, Mary J. Ballesta-Martinez, James Greening, Karen E. Heath, Vanesa López-González, Margaret E. Wierman, Ravikumar Balasubramanian, David L. Keefe, Raja Brauner, Paula Fernández-Álvarez, William F. Crowley, Taibo Li
المصدر: Hum Mol Genet
مصطلحات موضوعية: Adult, Male, endocrine system, Kallmann syndrome, Ubiquitin-Protein Ligases, Locus (genetics), Haploinsufficiency, Gonadotropin-releasing hormone, Immunoglobulin D, Gonadotropin-Releasing Hormone, 03 medical and health sciences, 0302 clinical medicine, Basic Helix-Loop-Helix Transcription Factors, Genetics, medicine, Animals, Humans, Molecular Biology, Gene, Zebrafish, Genetics (clinical), Aged, Genes, Dominant, 030304 developmental biology, Neurons, 0303 health sciences, biology, Kallmann Syndrome, General Medicine, Middle Aged, Zebrafish Proteins, medicine.disease, biology.organism_classification, Phenotype, Disease Models, Animal, Mutation, biology.protein, Female, General Article, hormones, hormone substitutes, and hormone antagonists, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44d9d3170097aaeef572d0b0a7bc2a40
https://doi.org/10.1093/hmg/ddaa120