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Hereditary vitamin D resistant rickets due to deletion of exon 3 of the vitamin D receptor


, : Hereditary vitamin D resistant rickets due to deletion of exon 3 of the vitamin D receptor. American Journal of Human Genetics 55(3 SUPPL ): A240


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Other references

Rühmann, O.; Lipka, W.; Bohnsack, M., 2008: External rotation osteotomy of the humerus for treatment of external rotation deficit in palsies. Aim of the procedure is shifting the arc of shoulder rotation for an improved external rotation, reaching a physiological elbow flexion without striking of the lower arm against the thorax; improvement of the activities of daily living because gui...

Harrison, F.; Jones, A.P.; Bentham, G.; van Sluijs, E.M.F.; Cassidy, Aín.; Griffin, S.J., 2011: The impact of rainfall and school break time policies on physical activity in 9-10 year old British children: a repeated measures study. The weather may be a driver of seasonal patterns in children's physical activity (PA). A better understanding of the relationships between weather and PA may help increase children's PA. This study aims to examine the association between...

Rodriguez Fragoso, L.; Hernandez T.Maria Elena; Flores Hernandez, J.; Reyes Esparza, J.; Perez Liz, G., 2002: TGF-b1 modifies the activity and expression of urokinase in hepatic stellate cell activated. The activation of hepatic stellate cells plays an important role in hepatic fibrogenesis. Urokinase (uPA)is involved in the EEM degradation. Recent evidences indicated that TGF-b1 accelerates the activation of stellate cells. Therefore, the aims o...

Lopes Filho, G.de.J.; Ricca, A.B.; Sato, N.Y.; Scalabrin, M., 1993: A historical view of the laparoscopic surgery role in the treatment of inguinocrural hernias. Revista Da Associacao Medica Brasileira 39(3): 187-187

Otto, W., 1955: Functional roentgen diagnosis of the cervical spine in medical practice. Fortschritte auf dem Gebiete der Rontgenstrahlen 83(6): 834-839

Krzhechek, I., 1975: The possibility of influencing the regulation of salt and water intake during critical periods of development in rats. Peculiarities in water and salt (NaCl) appetite were studied in rats under various experimental influences during critical periods of development. During sexual maturation, females consume more salt than males. These sex-dependent differences may...

Choi, M.; Lee, H.Suk.; Park, J.Ho., 2015: Usability of Academic Electronic Medical Record Application for Nursing Students' Clinical Practicum. Nursing curricula for undergraduate nursing students need to reflect the information technology used in current nursing practice. A smart-device Academic Electronic Medical Record (AEMR) application can help nursing students access and document re...

Mohyr'ova, L.A.; Danylenko, V.S.; Bondarenko, B.M.; Dmytrenko, S.O.; Zhernokl'ov, V.M., 1998: Creation of specific method for detection bee venom originally. The sensitive and specific method for detection bee venom originally with rabbit lyophilized antitoxic antibodies have been established.

Zhang, K.; Zeng, H.; Chen, W-Qi., 2006: Clinical features and diagnosis of langerhans cell hyperplasia. The incidence rate of langerhans cell hyperplasia (LCH) is increasing. Its clinical manifestation is so diversified that it is easy to be misdiagnosed. This study was to analyze its clinical features for the sake of early diagnosis and treatment....

Sedivy, R.; Battistutti, W.B., 2003: Nanobacteria promote crystallization of psammoma bodies in ovarian cancer. Serous papillary adenocarcinomas of the ovary are often associated with microcalcifications, namely psammoma bodies. Archebacteria such as nanobacteria are, for example, involved in kidney stone formation. Nanobacteria deserve close scrutiny as th...