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Joubert syndrome
American Board of Psychiatry and Neurology, Inc
Joubert Syndrome Genereview
Joubert Syndrome and Related Disorders
Renal Cystic Disorders Infosheet 6-14-19
Autism Spectrum Disorders—A Genetics Review Judith H
Psykisk Utviklingshemming Og Forsinket Utvikling
Blueprint Genetics Comprehensive Growth Disorders / Skeletal
Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders
Irish Rare Kidney Disease Network (IRKDN)
Joubert Syndrome
The CETT Program Is an Initiative Developed and Sponsored by the NIH Office of Rare Diseases
Joubert Syndrome and Related Disorders Precision Panel Overview Indications Clinical Utility
Chromosomal Microarray, Postnatal, Clarisure® Oligo-SNP
Recommendations for Evaluation and Monitoring of Patients with Joubert Syndrome and Related Disorders
Genetics of Atrioventricular Canal Defects Flaminia Pugnaloni1, Maria Cristina Digilio2, Carolina Putotto1, Enrica De Luca1, Bruno Marino1 and Paolo Versacci1*
Targeted Exon Skipping of a CEP290 Mutation Rescues Joubert Syndrome Phenotypes in Vitro and in a Murine Model
A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye
Ciliopathies
Top View
Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Nephro Genetics Actia Nephro Inherited Genetics Genetics
Blueprint Genetics Ciliopathy Panel
Nyresykdommer V01
Download CGT Exome V2.0
Gen Genetic Test Genetic Test Subjectkey (NDAR GUID)
Genetic Architecture for Human Aggression: a Study of Gene–Phenotype Relationship in OMIM Yanli Zhang-James1 and Stephen V
Joubert Syndrome: When to Suspect a Ciliopathy in a Patient with Liver Failure and Syndromic Phenotype
Skeletal Dysplasia Panel Versie V3 (450 Genen) Centrum Voor Medische Genetica Gent
WES Gene Package Intellectual Disability.Xlsx
Connecting Genes to Brain in the Autism Spectrum Disorders
Kidneyseq™: a Comprehensive Inherited Kidney Disease Panel Iowa Institute of Human Genetics
Genetic Complexity in Joubert Syndrome and Related Disorders
Renal-Hepatic-Pancreatic Dysplasia: a Sibship with Skeletal and Central Nervous System Anomalies and NPHP3 Mutation Lawrence Copelovitch,1* Maureen M
Hearing and Vision Loss Next- Generation Sequencing Panel
Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease Dan Doherty, MD, Phd
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the Babyseq Project
Mechanistic Insights Into Bardet-Biedl Syndrome, a Model Ciliopathy
Monogenic and Syndromic Obesity Precision Panel Overview Indications Clinical Utility
PTPNI I Testing in Noonan Syndrome
Joubert Syndrome with Congenital Hepatic Fibrosis)
Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1
Expanded Carrier Screening
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
GENETIC TESTING REQUISITION Please Ship All
Dysfunction of the Ciliary ARMC9/TOGARAM1 Protein Module Causes Joubert Syndrome
Rare Disease Conditions Eligibility Criteria Maintenance Release V1.7.2
Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
National Institute of Neurological Disorders and Stroke Update
Joubert Syndrome: a Rare Disease with Classical Imaging Features
Hydrops Fetalis Precision Panel Overview Indications
Rare Disease Registries in Europe
Expanding the Genetic and Phenotypic Spectrum of Skeletal Dysplasias
Psykisk Utviklingshemming
Common Variants in Mendelian Kidney Disorder Genes and Their Association with Renal Function And
Joubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality Sinha P, Zohar Mashoud R Tawam Hospital, ABU DHABI, United Arab Emirates
Report the NPHP1 Gene Deletion Associated with Juvenile
Prospective Evaluation of Kidney Disease in Joubert Syndrome
Prenatal Testing Requisition
Genetic Identification of Inherited Cystic Kidney
Comprehensive Genetic Test Menu
Interpreting the Clinical Significance of Combined Variants In
Joubert Syndrome (And Related Disorders) (OMIM 213300)
Orphacode Renal Diagnoses
Joubert Syndrome 2
Diseases Tested – Preconception Genetic Carrier Screen
September 2013 Preventiongenetics Newsletter
Personalized Bone Reconstruction and Regeneration in the Treatment of Craniosynostosis
Download Gene List
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Identification of Variants in CNGA3 As Cause for Achromatopsia by Exome Sequencing of a Single Patient
Prevalence and Incidence of Rare Diseases
Invitae Carrier Screening (Continued)
PGT-M Disease List
OMIM Mendelian Gene List V2.0
The Diagnostic Utility of Exome Sequencing in Joubert Syndrome and Related Disorders
List of Nephropathy Genes
Exome Sequencing Greatly Expedites the Progressive Research of Mendelian Diseases
Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia
Anesthesia Implications of Syndromes and Unusual Disorders 1
Recessive Gene List V2.0
Next Generation Sequencing (NGS)