Neurology / Neuropediatrics

• Johanson-Blizzard syndrome (sequence analysis of UBR1 gene) + info
   
• Joubert syndrome (WES based NGS panel for 35 genes) + info
   
• Joubert syndrome 12 | Acrocallosal syndrome | Hydrolethalus syndrome | Al-Gazali-Bakalinova syndrome (deletion/duplication analysis on KIF7 gene) + info
   
• Joubert syndrome 12 | Acrocallosal syndrome | Hydrolethalus syndrome | Al-Gazali-Bakalinova syndrome (sequence analysis of KIF7 gene) + info
   
• Joubert syndrome 20 | Meckel syndrome 11 (deletion/duplication analysis on TMEM231 gene) + info
   
• Joubert syndrome 23 | Short-rib thoracic dysplasia with polydactyly (deletion/duplication analysis on KIAA0586) + info
   
• Joubert syndrome 3 (sequence analysis of AHI1 gene) + info
   
• Joubert syndrome type 1 (sequence analysis of INPP5E gene) + info
   
• Joubert syndrome type 13 (JBTS13, sequence analysis of TCTN1 gene) + info
   
• Joubert syndrome type 14 (JBTS14, sequence analysis of TMEM237 gene) + info
   
• Joubert syndrome type 15 (JBTS15, sequence analysis of CEP41 gene) + info
   
• Joubert syndrome type 16 (JBTS16, sequence analysis of TMEM138 gene) + info
   
• Joubert syndrome type 17 (JBTS17, sequence analysis of C5orf42 gene) + info
   
• Joubert syndrome type 2 (JBTS2, sequence analysis of TMEM216 gene) + info
   
• Joubert syndrome type 20 (JBTS20, sequence analysis of TMEM231 gene) + info
   
• Joubert syndrome type 3 (deletion/duplication analysis on AHI1 gene) + info
   
• Joubert syndrome type 8 (JBTS8, sequence analysis of ARL13B gene) + info
   
• Joubert syndrome type 9 (sequence analysis of CC2D2A gene) + info
   
• Joubert type 4 syndrome (deletion/duplication analysis of NPHP1 gene) + info