LE WE PMID CA
Joubert s syndrome1395Joubert Syndrom

AHI1

Albinism

ARL13B

Axon guidance

Breathing (Neurophysiology)

CC2D2A

CEP290

Cilia

CNS (Development)

Congenital fibrosis of the extraocular muscles type1

Corpus callosum

Duane retraction syndrome

Growth cone

Horizontal gaze palsy with progressive scoliosis

Hox

Joubert s syndrome

Joubert syndrome and related disorders

Kallmann s syndrome

Kidney (Nephronophthisis)

Krox20 Egr2

L1 syndrome

Meckel s syndrome

NPHP1

Parafacial respiratory group

Pontine tegmental cap dysplasia

Rett s syndrome

RPGRIP1L

TMEM67 MKS3 Meckelin

2005  
1
Genetic basis of Joubert syndrome and related disorders of cerebellar development.
[16244321] Hum Mol Genet 14 Spec No. 2(-): R235-42 (2005)
2009  
2
Clinical and molecular features of Joubert syndrome and related disorders.
[19876931] Am J Med Genet C Semin Med Genet 151C(4): 326-40 (2009)
2009  
3
Developmental basis of the rostro-caudal organization of the brainstem respiratory rhythm generator.
[19651648] Philos Trans R Soc Lond B Biol Sci 364(1529): 2469-76 (2009)
2010  
4
2010  
5
Joubert Syndrome and related disorders.
[20615230] Orphanet J Rare Dis 5(-): 20 (2010)
2011  
6
A report of Joubert syndrome in an infant, with literature review.
[21977088] J Pediatr Neurosci 6(1): 44-7 (2011)
2010  
7
The role of primary cilia in neuronal function.
[20097287] Neurobiol Dis 38(2): 167-72 (2010)
2009  
8
Joubert syndrome: insights into brain development, cilium biology, and complex disease.
[19778711] Semin Pediatr Neurol 16(3): 143-54 (2009)
2010  
9
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
[20232449] Hum Mutat 31(5): E1319-31 (2010)

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