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Jalili syndrome (sequence analysis of CNNM4 gene)
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Jervell and Lange-Nielsen syndrome (deletion/duplication analysis on KCNQ1, KCNE1 genes)
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Jervell and Lange-Nielsen syndrome (NGS panel of 2 genes)
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Jervell and Lange-Nielsen syndrome (sequence analysis of KCNE1 gene)
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Jervell and Lange-Nielsen syndrome (sequence analysis of KCNQ1 gene)
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Johanson-Blizzard syndrome (sequence analysis of UBR1 gene)
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Joubert syndrome (WES based NGS panel of 35 genes, including CNV analysis)
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Joubert syndrome 12 | Acrocallosal syndrome | Hydrolethalus syndrome | Al-Gazali-Bakalinova syndrome (deletion/duplication analysis on KIF7 gene)
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Joubert syndrome 12 | Acrocallosal syndrome | Hydrolethalus syndrome | Al-Gazali-Bakalinova syndrome (sequence analysis of KIF7 gene)
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Joubert syndrome 20 | Meckel syndrome 11 (deletion/duplication analysis on TMEM231 gene)
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Joubert syndrome 23 | Short-rib thoracic dysplasia with polydactyly (deletion/duplication analysis on KIAA0586)
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Joubert syndrome 3 (sequence analysis of AHI1 gene)
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Joubert syndrome type 1 (sequence analysis of INPP5E gene)
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Joubert syndrome type 13 (JBTS13, sequence analysis of TCTN1 gene)
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Joubert syndrome type 14 (JBTS14, sequence analysis of TMEM237 gene)
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Joubert syndrome type 15 (JBTS15, sequence analysis of CEP41 gene)
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Joubert syndrome type 16 (JBTS16, sequence analysis of TMEM138 gene)
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Joubert syndrome type 17 (deletion/duplication analysis on C5orf42 gene)
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Joubert syndrome type 17 (JBTS17, sequence analysis of C5orf42 gene)
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Joubert syndrome type 2 (JBTS2, sequence analysis of TMEM216 gene)
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