Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.

Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.

Item
http://www.wikidata.org/entity/Q37296045
Joubert Syndrome and related disordersFurther delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutationsThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeRole of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.Joubert syndrome: monozygotic twins with discordant phenotypes.Ocular and oculomotor signs in Joubert syndrome."Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.Clinical and molecular analysis in Joubert syndrome.Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.
P2860

Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.

Item
http://www.wikidata.org/entity/Q37296045
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 1991
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Joubert syndrome: a clinical a ...... e fetus from the same sibship.
@en
Joubert syndrome: a clinical a ...... e fetus from the same sibship.
@nl
type
label
Joubert syndrome: a clinical a ...... e fetus from the same sibship.
@en
Joubert syndrome: a clinical a ...... e fetus from the same sibship.
@nl
prefLabel
Joubert syndrome: a clinical a ...... e fetus from the same sibship.
@en
Joubert syndrome: a clinical a ...... e fetus from the same sibship.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Joubert syndrome: a clinical a ...... e fetus from the same sibship.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698