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10.1007/s13730-015-0210-1 http://scihub22266oqcxt.onion/10.1007/s13730-015-0210-1 C5413751!5413751!28508964     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       CEN+Case+Rep 2016 ; 5 (2): 137-40 Nephropedia Template TP {{tp|p=28508964|t=2016. TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia |pdf=|usr=}}{{28508964}} gab.com Text TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia JO: CEN Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=28508964 #FOAvip Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic correlations in Joubert syndrome. TMEM67 is one of the genes that are relatively well established as contributing to Joubert syndrome with liver involvement. Here, we report a 2-month-old boy who was initially treated for urinary tract infection, which further led to the diagnosis of Joubert syndrome accompanied by renal hypodysplasia with two different mutations: c.2522A>C and c.1065 + 4Adel in TMEM67. Twit Text FOAVip TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia ????CEN Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=28508964 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28508964 #FOAvip English Wikipedia <ref>{{Cite pmid|28508964}}</ref> TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia #MMPMID28508964 Komatsu Y; Suzuki T; Tsurusaki Y; Miyake N; Matsumoto N; Yan K CEN Case Rep 2016[Nov]; 5 (2): 137-40 PMID28508964show ga Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic correlations in Joubert syndrome. TMEM67 is one of the genes that are relatively well established as contributing to Joubert syndrome with liver involvement. Here, we report a 2-month-old boy who was initially treated for urinary tract infection, which further led to the diagnosis of Joubert syndrome accompanied by renal hypodysplasia with two different mutations: c.2522A>C and c.1065 + 4Adel in TMEM67. äTMEM67 mutations found in a case of Joubert syndrome with renal hypody(epmc).pdf DeepDyve Pubget Overpricing