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  • Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

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Neurogenetics
Short report
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

 

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AbstractFullPdf
Aug 20184096133
Sep 20181423418
Oct 2018124123
Nov 20181311413
Dec 2018218103
Jan 2019217188
Feb 201920185
Mar 20194103516
Apr 20191772414
May 20191543016
Jun 2019852014
Jul 20191202316
Aug 20191331410
Sep 20198262
Oct 201988910
Nov 2019801510
Dec 201988106
Jan 2020105138
Feb 202011372
Mar 20207334
Apr 20206335
May 202068104
Jun 20206331
Jul 20205176
Aug 20204444
Sep 20206724
Oct 20208441
Nov 20204802
Dec 20204861
Total3686405239