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XB-GENEPAGE-6072914
Papers associated with she
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A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life., Vedovato N, Salguero MV, Greeley SAW, Yu CH, Philipson LH, Ashcroft FM., Diabetologia. May 1, 2024; 67 (5): 940-951.  |
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Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease., Sedaghat-Hamedani F, Rebs S, El-Battrawy I, Chasan S, Krause T, Haas J, Zhong R, Liao Z, Xu Q, Zhou X, Akin I, Zitron E, Frey N, Streckfuss-Bömeke K, Kayvanpour E., Int J Mol Sci. November 30, 2021; 22 (23):  |
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Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures., Weltzin MM, George AA, Lukas RJ, Whiteaker P., PLoS One. March 3, 2021; 16 (3): e0247825.  |
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Experiences with the marsupial frogs: reminiscences of a developmental biologist., Del Pino EM., Int J Dev Biol. January 1, 2021; 65 (1-2-3): 103-110. |
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Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance., Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE., Am J Hum Genet. February 7, 2019; 104 (2): 229-245.  |
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Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity., Srivastava S, Li D, Edwards N, Hynes AM, Wood K, Al-Hamed M, Wroe AC, Reaich D, Moochhala SH, Welling PA, Sayer JA., Physiol Rep. November 1, 2013; 1 (6): e00160.  |
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Divide and conquer: investigating the mechanisms behind mitosis., Brownlee C., ACS Chem Biol. October 24, 2006; 1 (9): 554-6. |
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Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis., Killoran CE, Abbott M, McKusick VA, Biesecker LG., Clin Genet. July 1, 2000; 58 (1): 28-30. |
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Identification of phosphorylated proteins associated with the fibroblast growth factor receptor type I during early Xenopus development., Ryan PJ, Paterno GD, Gillespie LL., Biochem Biophys Res Commun. March 27, 1998; 244 (3): 763-7. |
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Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site., Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S., J Clin Invest. March 1, 1998; 101 (5): 1028-35. |
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