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HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response

Arya, V ; Rahman, S ; Senniappan, S ; Flanagan, Se ; Ellard, S ; Hussain, K Arya, V (correspondence author)

Diabetic Medicine, March 2014, Vol.31(3), pp.e11-e15 [Peer Reviewed Journal]

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Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome

Delft, van, E. ; Andriessen, P. ; Vaessens, C.N.A.L. ; Buijs, J. ; Bambang Oetomo, S. Designed Intelligence

European Journal of Pediatrics, 2010, Vol.169(7), pp.895-898 [Peer Reviewed Journal]

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The end of the line? A case of drug resistance to third-line antiretroviral therapy

Rossouw, Theresa M ; Hitchcock, Sonia ; Botes, Mariëtte

Southern African Journal of HIV Medicine, 2016, Vol.17(1) [Peer Reviewed Journal]

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Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

Alsters, Suzanne I M ; Goldstone, Anthony P ; Buxton, Jessica L ; Zekavati, Anna ; Sosinsky, Alona ; Yiorkas, Andrianos M ; Holder, Susan ; Klaber, Robert E ; Bridges, Nicola ; van Haelst, Mieke M ; le Roux, Carel W ; Walley, Andrew J ; Walters, Robin G ; Mueller, Michael ; Blakemore, Alexandra I F

PLoS ONE [E], 2015, Vol.10(6), pp.urn:issn:1932-6203 [Peer Reviewed Journal]

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A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3

Germán-Díaz, Marta ; Rodriguez-Gil, Yolanda ; Cruz-Rojo, Jaime ; Charbit-Henrion, Fabienne ; Cerf-Bensussan, Nadine ; Manzanares, Javier ; Moreno-Villares, Jos

Pediatrics, Aug 2017, Vol.140(2) [Peer Reviewed Journal]

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Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy

Cirillo, Melissa ; Venkatesan, Charu ; Millichap, John ; Stack, Cynthia ; Nordli, Douglas Cirillo, Melissa (correspondence author)

Pediatrics, July 2015, Vol.136(1), p.e257 [Peer Reviewed Journal]

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H7N9 Influenza Viruses Are Transmissible in Ferrets by Respiratory Droplet

Zhang, Qianyi ; Shi, Jianzhong ; Deng, Guohua ; Guo, Jing ; Zeng, Xianying ; He, Xijun ; Kong, Huihui ; Gu, Chunyang ; Li, Xuyong ; Liu, Jinxiong ; Wang, Guojun ; Chen, Yan ; Liu, Liling ; Liang, Libin ; Li, Yuanyuan ; Fan, Jun ; Wang, Jinliang ; Li, Wenhui ; Guan, Lizheng ; Li, Qimeng ; Yang, Huanliang ; Chen, Pucheng ; Jiang, Li ; Guan, Yuntao ; Xin, Xiaoguang ; Jiang, Yongping ; Tian, Guobin ; Wang, Xiurong ; Qiao, Chuanling ; Li, Chengjun ; Bu, Zhigao ; Chen, Hualan Zhang, Qianyi (correspondence author)

Science, Jul 26, 2013, Vol.341(6144), pp.410-414 [Peer Reviewed Journal]

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Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome

Yamaga, Masaya ; Takemoto, Minoru ; Takada-Watanabe, Aki ; Koizumi, Naoko ; Kitamoto, Takumi ; Sakamoto, Kenichi ; Ishikawa, Takahiro ; Koshizaka, Masaya ; Maezawa, Yoshiro ; Yokote, Koutaro

Journal of the American Geriatrics Society, Aug 2017, Vol.65(8), pp.1853-1856 [Peer Reviewed Journal]

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Sustained relief of generalized dystonia despite prolonged interruption of deep brain stimulation

Cheung, Tyler ; Zhang, Cen ; Rudolph, Joseph ; Alterman, Ron ; Tagliati, Michele Cheung, Tyler (correspondence author)

Movement Disorders, Sep 2013, Vol.28(10), pp.1431-1434 [Peer Reviewed Journal]

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Donor-associated malignancy in kidney transplant patients

Cui, Cai-Bin ; Gerber, David Cui, Cai-Bin (correspondence author)

Journal of Clinical Investigation, Sep 2013, Vol.123(9), p.3708 [Peer Reviewed Journal]

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