Joubert syndrome: genotyping a Northern European patient cohort.

Joubert syndrome: genotyping a Northern European patient cohort.

Item
http://www.wikidata.org/entity/Q36475039
KIAA0586 is Mutated in Joubert SyndromeJoubert Syndrome in French Canadians and Identification of Mutations in CEP104MKS1 regulates ciliary INPP5E levels in Joubert syndrome.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Molecular genetic analysis of 30 families with Joubert syndrome.Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.Prenatal diagnosis of Joubert syndrome: A case report and literature review.Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center.Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome.
P2860

Joubert syndrome: genotyping a Northern European patient cohort.

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http://www.wikidata.org/entity/Q36475039
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2015 nî lūn-bûn
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name
Joubert syndrome: genotyping a Northern European patient cohort.
@ast
Joubert syndrome: genotyping a Northern European patient cohort.
@en
type
label
Joubert syndrome: genotyping a Northern European patient cohort.
@ast
Joubert syndrome: genotyping a Northern European patient cohort.
@en
prefLabel
Joubert syndrome: genotyping a Northern European patient cohort.
@ast
Joubert syndrome: genotyping a Northern European patient cohort.
@en
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P1476
P2093
P2860
P2888
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P478
P50
P577
P5875
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P921
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P1433
P1476
Joubert syndrome: genotyping a Northern European patient cohort.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932