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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Hypocalcemia and PTH[original query]
Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism.
The Journal of clinical endocrinology and metabolism 2018 5 103 (8): 2879-2888.
Cavaco Branca M, Canaff Lucie, Nolin-Lapalme Alexis, Vieira Margarida, Silva Tiago N, Saramago Ana, Domingues Rita, Rutter Meilan M, Hudon Jonathan, Gleason James L, Leite Valeriano, Hendy Geoffrey
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.
European journal of endocrinology 2018 11 180 (1): 59-70.
García-Castaño Alejandro, Madariaga Leire, Pérez de Nanclares Gustavo, Ariceta Gema, Gaztambide Sonia, Castaño Lu
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 8 34 (12): 2254-2263.
Wang Yabing, Nie Min, Wang Ou, Li Yuepeng, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi
Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 5 34 (9): 1609-1618.
Roberts Mary Scott, Gafni Rachel I, Brillante Beth, Guthrie Lori C, Streit Jamie, Gash David, Gelb Jeff, Krusinska Eva, Brennan Sarah C, Schepelmann Martin, Riccardi Daniela, Bin Khayat Mohd Ezuan, Ward Donald T, Nemeth Edward F, Rosskamp Ralf, Collins Michael
CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2020 2 26 (6): 642-650.
Wang Yabing, Wang Ou, Nie Min, Li Yuepeng, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi
A Pilot Study of the Association VDR Polymorphisms With Primary Hyperparathyroidism.
In vivo (Athens, Greece) 2023 4 37 (3): 1111-1116.
Angeliki Chorti, Charoula Achilla, Despoina Tsalkatidou, Moysis Moysidis, Angeliki Cheva, Anthoula Chatzikyriakidou, Theodosios Papavramid
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