نتائج البحث - "Jueppner, Harald"

المساهمون: European Reference networks Endo-ERN, Ministry of Economy and Competitiveness, European Regional Development Fund, European Society for Paediatric Endocrinology

المصدر: European Journal of Endocrinology ; volume 189, issue 1, page 123-131 ; ISSN 0804-4643 1479-683X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1093/ejendo/lvad085Test
https://academic.oup.com/ejendo/article-pdf/189/1/123/50961875/lvad085.pdfTest

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5

كتاب

Clinical disorders of phosphate homeostasis

المؤلفون: Liu, Eva S., Jüppner, Harald

المصدر: Feldman and Pike's Vitamin D ; page 281-302 ; ISBN 9780323913386

الإتاحة: https://doi.org/10.1016/b978-0-323-91338-6.00014-8Test
https://api.elsevier.com/content/article/PII:B9780323913386000148?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780323913386000148?httpAccept=text/plainTest

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6

دورية أكاديمية

Rare genetic disorders that impair parathyroid hormone synthesis, secretion, or bioactivity provide insights into the diagnostic utility of different parathyroid hormone assays

المؤلفون: Höppner, Jakob, Jüppner, Harald

المصدر: Current Opinion in Nephrology & Hypertension ; volume 33, issue 4, page 375-382 ; ISSN 1062-4821 1473-6543

الإتاحة: https://doi.org/10.1097/mnh.0000000000000999Test

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7

دورية أكاديمية

Epileptic seizures and abnormal tooth development as primary presentation of pseudohypoparathyroidism type 1B

المؤلفون: Van der Biest, Anne-Marie, Jüppner, Harald, Andreescu, Corina, Bravenboer, Bert

المصدر: BMJ Case Reports ; volume 17, issue 2, page e258403 ; ISSN 1757-790X

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1136/bcr-2023-258403Test

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8

دورية أكاديمية

Backbone Modification Provides a Long-Acting Inverse Agonist of Pathogenic, Constitutively Active PTH1R Variants

المؤلفون: Liu, Shi, Daley, Eileen J., Tran, Lauren My-Linh, Yu, Zhen, Reyes, Monica, Dean, Thomas, Khatri, Ashok, Levine, Paul M., Balana, Aaron T., Pratt, Matthew R., Jüppner, Harald, Gellman, Samuel H., Gardella, Thomas J.

المساهمون: Foundation for the National Institutes of Health, William F. Vilas Trust Estate, Chemistry-Biology Interface Training

المصدر: Journal of the American Chemical Society ; volume 146, issue 10, page 6522-6529 ; ISSN 0002-7863 1520-5126

مصطلحات موضوعية: Colloid and Surface Chemistry, Biochemistry, General Chemistry, Catalysis

الإتاحة: https://doi.org/10.1021/jacs.3c09694Test

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9

دورية أكاديمية

Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism

المؤلفون: Portales‐Castillo, Ignacio, Dean, Thomas, Khatri, Ashok, Jüppner, Harald, Gardella, Thomas J

المساهمون: National Institutes of Health

المصدر: JBMR Plus ; volume 6, issue 6 ; ISSN 2473-4039 2473-4039

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1002/jbm4.10604Test

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10

دورية أكاديمية

A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B

المؤلفون: Campbell, Devon, Reyes, Monica, Kaygusuz, Sare Betul, Abali, Saygın, Guran, Tulay, Bereket, Abdullah, Kagami, Masayo, Turan, Serap, Jüppner, Harald

المساهمون: National Institutes of Health

المصدر: Bone ; volume 157, page 116344 ; ISSN 8756-3282

مصطلحات موضوعية: Histology, Physiology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.bone.2022.116344Test
https://api.elsevier.com/content/article/PII:S8756328222000205?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S8756328222000205?httpAccept=text/plainTest

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