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CC2D2A
Ciliopathiesneuromuscularciliopathies Disorders Disorders Ciliopathiesciliopathies
A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
Ciliopathy-Associated Gene Cc2d2a Promotes Assembly of Subdistal Appendages on the Mother Centriole During Cilia Biogenesis
Ciliopathies Gene Panel
Clinical Utility Gene Card For: Joubert Syndrome - Update 2013
REPORT CC2D2A, Encoding a Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
Ciliary Genes Arl13b, Ahi1 and Cc2d2a Differentially Modify Expression of Visual Acuity
Supplementary Information – Postema Et Al., the Genetics of Situs Inversus Totalis Without Primary Ciliary Dyskinesia
Cystic Kidney Diseases and During Vertebrate Gastrulation
Ciliopathies
Ciliary Genes in Renal Cystic Diseases
Clinical and Genetic Heterogeneity of Primary Ciliopathies (Review)
Dysfunction of the Ciliary ARMC9/TOGARAM1 Protein Module Causes Joubert Syndrome
Comprehensive Analysis Reveals Novel Gene Signature in Head and Neck Squamous Cell Carcinoma: Predicting Is Associated with Poor Prognosis in Patients
171151-Res-2-At Working Copy.Xlsx
Meckel Syndrome &Ndash
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Whole-Exome Sequencing Identifies Recessive WDR62 Mutations in Severe Brain Malformations
Top View
(PKD2), Eccentric (XNTA), and Meckelin (MKS3) in the Ciliated Model Organism Paramecium Tetraurelia Megan Smith Valentine University of Vermont
Joubert and Meckel Information Sheet 6-10-19
Ciliopathies
HHS Public Access Author Manuscript
Components of Intraflagellar Transport Complex a Function
An Integrative Genomic Analysis of the Longshanks Selection Experiment for Longer Limbs in Mice
Identification of a Novel ARL13B Variant in a Joubert Syndrome
Kidneyseq™: a Comprehensive Inherited Kidney Disease Panel Iowa Institute of Human Genetics
Compound Heterozygous Alterations in Intraflagellar Transport Protein CLUAP1 in a Child with A
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Supplementary Information Figure S1: Coverage Efficiency of the Mips
Kidneyseq V4 Gene List.Pdf
Ciliary Genes Arl13b, Ahi1 and Cc2d2a Differentially
How Transition Fibers and the Transition Zone Control Ciliary Composition
Founder Mutations and Genotype-Phenotype Correlations In
The Nonmotile Ciliopathies Jonathan L
Novel CC2D2A Compound Heterozygous Mutations Cause Joubert Syndrome
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease