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AHI1
Ciliopathies Gene Panel
Phosphoinositide 3-Kinase-C2α Regulates Polycystin-2 Ciliary Entry
Evidence of Oligogenic Inheritance in Nephronophthisis
Intrafamilial Variability and Clinical Heterogeneity in Two Siblings With
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Ciliary Genes Arl13b, Ahi1 and Cc2d2a Differentially Modify Expression of Visual Acuity
Ahi1 Promotes Arl13b Ciliary Recruitment, Regulates Arl13b Stability and Is Required for Normal Cell Migration Jesúsmuñoz-Estrada1 and Russell J
Information Sheet on Ciliopathy Testing
Cystic Kidney Diseases and During Vertebrate Gastrulation
Ciliopathies
Ciliary Genes in Renal Cystic Diseases
Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Genome-Wide Mapping of DNA-Binding Sites Identifies
EGL Test Description
Mechanistic Analysis of an Extracellular Signal-Regulated
Aagab S00002 Aars S00003 Aars2 S00004 Aass S02483
Joubert and Meckel Information Sheet 6-10-19
Top View
1 AHI1 Mutations Cause Both Retinal
Ciliopathies
Benchmarking Exomiser on Real Patient Whole-Exome Data
Comprehensive Genotyping Reveals RPE65 As the Most Frequently Mutated Gene in Leber Congenital Amaurosis in Denmark
Congenital Stationary Night Blindness; RS: Retinoschisis
The Transition Zone Protein AHI1 Regulates Neuronal Ciliary Trafficking of MCHR1 and Its Downstream Signaling Pathway
Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder Technical Brief Number 23
Ahi1 Regulates the Nuclear Translocation of Glucocorticoid
Kidneyseq™ V4 – 312 Genes CAKUT Branchiooculofacial Syndrome AD
Compound Heterozygous Alterations in Intraflagellar Transport Protein CLUAP1 in a Child with A
Compound Heterozygous Alterations in Intraflagellar Transport Protein CLUAP1 in a Child with a Novel Joubert and Oral–Facial–Digital Overlap Syndrome
Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1
Murine Joubert Syndrome Reveals Hedgehog Signaling Defects As a Potential Therapeutic Target for Nephronophthisis
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Chapter 4: Role of Modifier Effects on Retinal Phenotypes In
(Ahi1) Deficiency in Mice Alters Trkb Signaling with a Depressive
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort
Missense Mutations in the WD40 Domain of AHI1 Cause Non