Pages that link to "Q41842687"
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The following pages link to Clinical utility gene card for: Joubert syndrome--update 2013. (Q41842687):
Displaying 9 items.
- Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences (Q24629091) (← links)
- Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis (Q33919616) (← links)
- DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome (Q36106080) (← links)
- Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders (Q36324326) (← links)
- Joubert syndrome: genotyping a Northern European patient cohort (Q36475039) (← links)
- Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles. (Q43170505) (← links)
- A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies (Q47706146) (← links)
- Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood (Q48959079) (← links)
- Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model (Q93183806) (← links)