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1
المؤلفون: John K. Amory, Nelly Pitteloud, Ching Hui Wu, Yee-Ming Chan, Adelaide De Guillebon, William F. Crowley, Mariarosaria Lang-Muritano, Felecia Cerrato, Sarah Tsiaras, Helene B. Lavoie, Stephanie B. Seminara, Ariana Gaspert, Lacey Plummer
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 106(28)
مصطلحات موضوعية: Male, medicine.medical_specialty, endocrine system, Adolescent, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Gonadotropin-releasing hormone, Biology, medicine.disease_cause, Preprohormone, Frameshift mutation, Gonadotropin-Releasing Hormone, Hypogonadotropic hypogonadism, Internal medicine, medicine, Missense mutation, Humans, Amino Acid Sequence, Genetic Testing, Protein Precursors, Child, Gonadal Steroid Hormones, DNA Primers, Genetics, Mutation, Multidisciplinary, Base Sequence, Hypogonadism, Biological Sciences, medicine.disease, Smell, Endocrinology, Female, Congenital Hypogonadotropic Hypogonadism, hormones, hormone substitutes, and hormone antagonists
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f5dad85c30d3bb67f9247e63117feaeTest
https://pubmed.ncbi.nlm.nih.gov/19567835Test -
2
المؤلفون: Thomas A. Neubert, Nelly Pitteloud, Jinghong Ma, Chong-Feng Xu, W. Todd Miller, Pamela M. Pollock, Moosa Mohammadi, Anna V. Eliseenkova, Wanqing Li, Huaibin Chen
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 105(50)
مصطلحات موضوعية: inorganic chemicals, macromolecular substances, Crystallography, X-Ray, environment and public health, Receptor tyrosine kinase, Catalytic Domain, medicine, Transferase, Humans, Tyrosine, Phosphorylation, Receptor, Fibroblast Growth Factor, Type 2, chemistry.chemical_classification, Multidisciplinary, biology, Chemistry, Kinase, Active site, Kallmann Syndrome, Biological Sciences, Protein Structure, Tertiary, Crystallography, enzymes and coenzymes (carbohydrates), Enzyme, Mechanism of action, Biochemistry, Mutation, biology.protein, bacteria, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e26a11b471c9909b4353ba2793efdd63Test
https://pubmed.ncbi.nlm.nih.gov/19060208Test -
3
المؤلفون: William F. Crowley, Taneli Raivio, Qun-Yong Zhou, Lacey Plummer, Jia-Da Li, Elka Jacobson-Dickman, Pamela L. Mellon, Chengkang Zhang, Nelly Pitteloud, Duarte Pignatelli, Lindsay W. Cole
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 104(44)
مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, Kallmann syndrome, Population, Gonadotropin-releasing hormone, Biology, medicine.disease_cause, Gastrointestinal Hormones, Gonadotropin-Releasing Hormone, Mice, Hypogonadotropic hypogonadism, Cell Movement, Internal medicine, medicine, Animals, Humans, education, Genetics, GnRH Neuron, Mice, Knockout, Neurons, education.field_of_study, Mutation, Multidisciplinary, Base Sequence, Hypogonadism, Reproduction, Neuropeptides, Prokineticin receptor 2, Kallmann Syndrome, Biological Sciences, medicine.disease, Prokineticin, Pedigree, Endocrinology, Phenotype, Gene Expression Regulation, Female, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c7e0544a870cea0103f2a75be64a41bTest
https://pubmed.ncbi.nlm.nih.gov/17959774Test