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المؤلفون: Thérèse Bouthors, Andrew A. Dwyer, Cheng Xu, Céline Richard, Sophie Stoppa-Vaucher, Eglantine Elowe-Gruau, Daniele Cassatella, Franziska Phan-Hug, Almer M. van der Sloot, Maria-Christina Antoniou, Michael Hauschild, Nelly Pitteloud, James S. Acierno
المصدر: Annals of pediatric endocrinology & metabolism, vol. 24, no. 1, pp. 49-54
Annals of Pediatric Endocrinology & Metabolismمصطلحات موضوعية: Delayed puberty, medicine.medical_specialty, Novel mutation, Endocrinology, Diabetes and Metabolism, Genetic counseling, Anosmia, Case Report, 030209 endocrinology & metabolism, Choanal atresia, CHD7, Pubertal delay, CHARGE syndrome, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Coloboma, business.industry, Micropenis, medicine.disease, Bilateral choanal atresia, Endocrinology, Pediatrics, Perinatology and Child Health, medicine.symptom, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d7dd78702ceacf10d4b6eefac6c311fTest
https://doi.org/10.6065/apem.2019.24.1.49Test -
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المؤلفون: Sara, Barraud, Brigitte, Delemer, Céline, Poirsier-Violle, Jérôme, Bouligand, Jean-Claude, Mérol, Florent, Grange, Brigitte, Higel-Chaufour, Bénédicte, Decoudier, Mohamad, Zalzali, Andrew A, Dwyer, James S, Acierno, Nelly, Pitteloud, Robert P, Millar, Jacques, Young
المصدر: Neuroendocrinology. 111(1-2)
مصطلحات موضوعية: Adult, Cohort Studies, Male, Patched-1 Receptor, Anosmia, Hypogonadism, Mutation, Humans, Basal Cell Nevus Syndrome, Female, Kallmann Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::097f42e5771f512190b7e26888d80fa4Test
https://pubmed.ncbi.nlm.nih.gov/33166965Test -
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المؤلفون: Cheng Xu, Nelly Pitteloud
المصدر: Pituitary Disorders of Childhood ISBN: 9783030113384
مصطلحات موضوعية: Infertility, medicine.medical_specialty, Kallmann syndrome, Secondary sex characteristic, business.industry, Genetic disorder, Anosmia, Context (language use), Gonadotropin-releasing hormone, medicine.disease, Endocrinology, Internal medicine, medicine, Congenital Hypogonadotropic Hypogonadism, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2e8ffa1f1e54d5f4d815a2ca0584cae3Test
https://doi.org/10.1007/978-3-030-11339-1_12Test -
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المؤلفون: Mohamad Maghnie, Séverine Trabado, Georgios Papadakis, Giovanna Pala, Claire Bouvattier, Jacques Young, Andrew A. Dwyer, Luigi Maione, Nelly Pitteloud, Jérôme Bouligand, Philippe Chanson
المصدر: European journal of endocrinology, vol. 182, no. 2, pp. 185
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Hormone Replacement Therapy, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Population, Anosmia, 030209 endocrinology & metabolism, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Hyposmia, Internal medicine, medicine, Humans, Young adult, education, education.field_of_study, Anthropometry, business.industry, Kallmann Syndrome, General Medicine, medicine.disease, Body Height, Transgender hormone therapy, 030220 oncology & carcinogenesis, Female, Congenital Hypogonadotropic Hypogonadism, medicine.symptom, business, Body Height/physiology, Kallmann Syndrome/drug therapy, Kallmann Syndrome/physiopathology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d397cee5b5050e17a4c1bdcfd62aa07eTest
https://doi.org/10.1530/eje-19-0537Test -
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المؤلفون: Philippe Rondard, Oualid Sbai, Marija Pfeifer, Carles Gaston-Massuet, Yasufumi Shigeyoshi, Mehul T. Dattani, Louise C. Gregory, Tony Hulse, Mark J. McCabe, Nelly Pitteloud, Koh-hei Masumoto, Kyriaki S. Alatzoglou, Mamoru Nagano, Charles R. Buchanan, Vaitsa Tziaferi, Juan Pedro Martinez-Barbera
المصدر: The Journal of Clinical Endocrinology and Metabolism
مصطلحات موضوعية: Male, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Hypopituitarism, Biochemistry, Receptors, G-Protein-Coupled, Cohort Studies, Mice, 0302 clinical medicine, Endocrinology, Septo-Optic Dysplasia, Child, Mice, Knockout, 0303 health sciences, JCEM Online: Advances in Genetics, Homozygote, Pedigree, 3. Good health, Phenotype, Child, Preschool, Female, medicine.symptom, Heterozygote, Hypothalamo-Hypophyseal System, medicine.medical_specialty, Genotype, Receptors, Peptide, Anosmia, Context (language use), Biology, Gastrointestinal Hormones, 03 medical and health sciences, Hypogonadotropic hypogonadism, Internal medicine, medicine, Animals, Humans, Genetic Testing, 030304 developmental biology, Neuropeptides, Biochemistry (medical), Infant, Newborn, Infant, Heterozygote advantage, Septo-optic dysplasia, Kallmann Syndrome, medicine.disease, HEK293 Cells, Dysplasia, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9f4898d10fd7444d11434a3c086140Test
https://doi.org/10.1210/jc.2012-3067Test -
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المؤلفون: Pierre Bouloux, Paolo Giacobini, Manuel Tena-Sempere, Vincent Prevot, Catherine Dodé, Taneli Raivio, Richard Quinton, Nelly Pitteloud, Mohamad Maghnie, Nicolas de Roux, Jacques Young, J.-P. Hardelin, Ulrich Boehm, Leo Dunkel, Andrew A. Dwyer, Anders Juul, Mehul T. Dattani
المساهمون: Universität des Saarlandes [Saarbrücken], University College of London [London] (UCL), Université Paris Diderot - Paris 7 (UPD7), Université Paris Descartes - Paris 5 (UPD5), William Harvey Research Institute, Barts and the London Medical School, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), University of Lille, Institut Pasteur [Paris], University of Copenhagen = Københavns Universitet (KU), Universita degli studi di Genova, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, University of Helsinki, University of Córdoba [Córdoba], Newcastle University [Newcastle], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Institut Pasteur [Paris] (IP), University of Copenhagen = Københavns Universitet (UCPH), Università degli studi di Genova = University of Genoa (UniGe), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Universidad de Córdoba = University of Córdoba [Córdoba], Prevot, Vincent
المصدر: Nature Reviews Endocrinology
Nature Reviews Endocrinology, Nature Publishing Group, 2015, 11 (9), pp.547-564. ⟨10.1038/nrendo.2015.112⟩
Nature Reviews Endocrinology, 2015, 11 (9), pp.547-564. ⟨10.1038/nrendo.2015.112⟩مصطلحات موضوعية: Infertility, Isolated hypogonadotropic hypogonadism, medicine.medical_specialty, business.industry, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Anosmia, Gonadotropin-releasing hormone, Bioinformatics, medicine.disease, 3. Good health, Endocrinology, Hyposmia, Internal medicine, medicine, Medical genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Congenital Hypogonadotropic Hypogonadism, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f137505cb5f196026cb49797e9c7bbe3Test
https://www.hal.inserm.fr/inserm-03204444Test -
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المؤلفون: Nelly Pitteloud, William F. Crowley, Ravikumar Balasubramanian, Andrew A. Dwyer, Ursula B. Kaiser, Stephanie B. Seminara
المصدر: Neuroendocrinology. 92:81-99
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Receptors, Peptide, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Hypothalamus, Anosmia, Nerve Tissue Proteins, Disease, Biology, Hypothalamic disease, Receptors, G-Protein-Coupled, Gastrointestinal Hormones, Gonadotropin-Releasing Hormone, Mice, Olfaction Disorders, Cellular and Molecular Neuroscience, Endocrinology, At the Cutting Edge, Hypogonadotropic hypogonadism, Internal medicine, medicine, Animals, Humans, Extracellular Matrix Proteins, Endocrine and Autonomic Systems, Hypogonadism, Neuropeptides, Receptors, Neurokinin-3, Kallmann Syndrome, medicine.disease, Phenotype, Fibroblast Growth Factors, medicine.anatomical_structure, Female, Neuron, medicine.symptom, Receptors, LHRH, hormones, hormone substitutes, and hormone antagonists, Receptors, Kisspeptin-1, Transcription Factors, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cafe9a9d3176c2aff0fe7f3fdb11b46fTest
https://doi.org/10.1159/000314193Test -
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المؤلفون: Frances J. Hayes, Richard Quinton, John L. Falardeau, Simon H. S. Pearce, Taneli Raivio, William F. Crowley, Nelly Pitteloud, Virginia A. Hughes, Paul A. Boepple, Andrew A. Dwyer, Lindsay W. Cole, Hang Lee
المصدر: New England Journal of Medicine. 357:863-873
مصطلحات موضوعية: Adult, Male, Isolated hypogonadotropic hypogonadism, Delayed puberty, medicine.medical_specialty, Pediatrics, Adolescent, Kallmann syndrome, Remission, Spontaneous, Anosmia, Nerve Tissue Proteins, Hypothalamic disease, Receptors, G-Protein-Coupled, Male infertility, Gonadotropin-Releasing Hormone, Hypogonadotropic hypogonadism, Internal medicine, medicine, Humans, Testosterone, Prospective Studies, Receptor, Fibroblast Growth Factor, Type 1, Puberty, Delayed, Extracellular Matrix Proteins, business.industry, Hypogonadism, Kallmann Syndrome, General Medicine, medicine.disease, Pedigree, Endocrinology, Mutation, Congenital Hypogonadotropic Hypogonadism, medicine.symptom, business, Gonadotropins, Receptors, LHRH, Follow-Up Studies, Receptors, Kisspeptin-1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a6d598e3701996b7eeb76db65bb4fccTest
https://doi.org/10.1056/nejmoa066494Test -
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المؤلفون: Paul A. Boepple, Nelly Pitteloud, Andrew A. Dwyer, Kathryn A. Martin, Richard Quinton, Ravikumar Balasubramanian, Stephanie B. Seminara, Frances J. Hayes, Margaret F. Lippincott, Lacey Plummer, Janet E. Hall, Yee-Ming Chan, Valerie F. Sidhoum
المصدر: The Journal of clinical endocrinology and metabolism. 99(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Anosmia, Hypothalamic–pituitary–gonadal axis, Biology, Biochemistry, Young Adult, Endocrinology, Hypogonadotropic hypogonadism, Recurrence, Internal medicine, medicine, Humans, Young adult, Retrospective Studies, Endocrine Care, Hypogonadism, Reproduction, Biochemistry (medical), Remission Induction, Retrospective cohort study, Micropenis, Middle Aged, medicine.disease, Adaptation, Physiological, Neurosecretory Systems, Natural history, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::721f4c4ee40c10b11d04d8265b0a3bd6Test
https://pubmed.ncbi.nlm.nih.gov/24423288Test -
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المؤلفون: Ravikumar Balasubramanian, Hilana M. Lewkowitz-Shpuntoff, Richard L. Doty, Stephanie B. Seminara, Margaret G. Au, Lacey Plummer, Virginia A. Hughes, Nelly Pitteloud, William F. Crowley, Yee-Ming Chan
المصدر: The Journal of clinical endocrinology and metabolism. 97(1)
مصطلحات موضوعية: Olfactory system, Adult, Male, medicine.medical_specialty, Adolescent, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Anosmia, Context (language use), Biochemistry, Cohort Studies, Olfaction Disorders, Young Adult, Endocrinology, Hyposmia, Hypogonadotropic hypogonadism, Internal medicine, medicine, Humans, JCEM Online: Advances in Genetics, business.industry, Hypogonadism, Biochemistry (medical), Case-control study, Kallmann Syndrome, Olfactory Pathways, Middle Aged, medicine.disease, body regions, Cross-Sectional Studies, Phenotype, Case-Control Studies, Female, medicine.symptom, business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cdc264574eda4d1582464d284e24bcdTest
https://pubmed.ncbi.nlm.nih.gov/22072740Test
