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COACH Syndrome
A 10-Year-Old Girl with Joubert Syndrome and Chronic Kidney Disease and Its Related Complications
Molar Tooth Sign of the Midbrain-Hindbrain Junction
Joubert Syndrome and Related Disorders
Molar Tooth Sign with Deranged Liver Function Tests: an Indian Case with COACH Syndrome
Clinical Utility Gene Card For: Joubert Syndrome - Update 2013
Joubert Syndrome and Related Disorders Precision Panel Overview Indications Clinical Utility
Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Blueprint Genetics Ciliopathy Panel
Joubert Syndrome: the Molar Tooth Sign of the Mid‑Brain
Mutations in KIF7 Link Joubert Syndrome with Sonic Hedgehog Signaling and Microtubule Dynamics
CLINICAL INSIGHTS INTRODUCTION by Gisele Ishak, M.D
Blueprint Genetics Joubert Syndrome Panel
Kidneyseq™ V4 – 312 Genes CAKUT Branchiooculofacial Syndrome AD
Blueprint Genetics Congenital Hepatic Fibrosis Panel
Blueprint Genetics Cystic Kidney Disease Panel
Joubert Syndrome with Congenital Hepatic Fibrosis)
Eye and Kidney: from Clinical Findings to Genetic Explanations
Nephronophthisis
Top View
Joubert Syndrome: Report of 11 Cases
Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and ORIGINAL RESEARCH Related Cerebellar Disorders
Ciliopathies
Case Report Molar Tooth Sign with Deranged Liver Function Tests: an Indian Case with COACH Syndrome
View and Presentation of Cep290base
Nephronophthisis Summary
Novel Compound Heterozygous TMEM67 Variants in a Vietnamese
Joubert Syndrome: Clinical and Radiological Characteristics of Nine Patients
Joubert Syndrome Gyanchand, V Chowdhury, R Dixit, S Singh
Interpreting the Clinical Significance of Combined Variants In
Joubert Syndrome (And Related Disorders) (OMIM 213300)
WES Gene Package Ciliopathy.Xlsx
Download Gene List
Joubert Syndrome and Related Disorders: a Rare Cause of Intrahepatic Portal Hypertension in Childhood
MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, A
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia