OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
about
Joubert Syndrome and related disordersMutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinJoubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationDelineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Developmental disorders of the midbrain and hindbrain.The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports.Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis.Prenatal diagnosis of Joubert syndrome: a case report.Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation.Diagnostic approach to cerebellar disease in children.
P2860
Q21202880-E31369C6-4559-4A37-998C-B959B1EDE83BQ21710711-4A967CBF-DEAA-4CC0-917A-48142C5A76E4Q24320320-5CAF3C9C-CC0C-48B8-AB44-943D4EC23CCFQ24651168-5DCF7A32-04A4-46EE-BFF0-08EAAFA755FAQ34246303-FDA4B682-5170-4B78-AC57-D11D6581596EQ37992627-00BC0FA2-0EE2-4C2E-B434-638B6DAE12A6Q39387734-5B040F19-1447-4AEB-9E54-9C3F73398B4FQ40963789-BA101616-A29B-48A0-A29F-6056A4E4BC25Q43866040-1540E5E8-F8FD-4609-9BDB-EC40242A0F3DQ48614734-169B593E-D5A1-4E3B-A125-BEDB130441AFQ48685137-4110063A-DE4F-4B19-B9BD-2618CD78A7A7
P2860
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@en
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@nl
type
label
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@en
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@nl
prefLabel
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@en
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@nl
P2093
P2860
P1476
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@en
P2093
P2860
P304
P356
10.1002/(SICI)1096-8628(20000313)91:2<135::AID-AJMG11>3.0.CO;2-1
P577
2000-03-01T00:00:00Z