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Joubert Syndrome and related disordersMutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeDescription, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesHuntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in miceClinical nosologic and genetic aspects of Joubert and related syndromes.Coexistence of Gaucher disease type 1 and Joubert syndromeMolar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.Clinical features and revised diagnostic criteria in Joubert syndrome.Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneityJoubert syndrome: report of 11 casesJoubert syndrome: review and report of seven new cases.Genetic basis of Joubert syndrome and related disorders of cerebellar development.OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.Joubert syndrome: Report of a neonatal case.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.Joubert syndrome: monozygotic twins with discordant phenotypes.Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome.Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.When is biopsy-proven TIN not simply TIN? Answers
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P2860
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Clinical and molecular analysis in Joubert syndrome.
@en
Clinical and molecular analysis in Joubert syndrome.
@nl
type
label
Clinical and molecular analysis in Joubert syndrome.
@en
Clinical and molecular analysis in Joubert syndrome.
@nl
prefLabel
Clinical and molecular analysis in Joubert syndrome.
@en
Clinical and molecular analysis in Joubert syndrome.
@nl
P2093
P2860
P1476
Clinical and molecular analysis in Joubert syndrome.
@en
P2093
Pellegrino JE
P2860
P356
10.1002/(SICI)1096-8628(19971003)72:1<59::AID-AJMG12>3.0.CO;2-T
P577
1997-10-01T00:00:00Z