Pages that link to "Q34934291"

The following pages link to Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis (Q34934291):

Displaying 36 items.

• A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice (Q28551283) (← links)
• Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel (Q34976923) (← links)
• Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. (Q35091744) (← links)
• Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice (Q35518233) (← links)
• Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. (Q35703002) (← links)
• High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting (Q35864599) (← links)
• De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa (Q35952846) (← links)
• Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. (Q35962536) (← links)
• Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations (Q36070974) (← links)
• Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis (Q36176309) (← links)
• Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing (Q36231506) (← links)
• Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy (Q36273706) (← links)
• Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing (Q36463209) (← links)
• Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family (Q36497414) (← links)
• Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases (Q36989961) (← links)
• Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease (Q37057166) (← links)
• Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. (Q37320277) (← links)
• Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing (Q37462050) (← links)
• Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology (Q37725061) (← links)
• Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies (Q38384010) (← links)
• Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature (Q38606557) (← links)
• Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies (Q38970287) (← links)
• Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. (Q39232242) (← links)
• Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population (Q39730574) (← links)
• A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis (Q40212680) (← links)
• Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis (Q42922870) (← links)
• Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology (Q43502606) (← links)
• Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent (Q46060999) (← links)
• Identification of a novel MYO7A mutation in Usher syndrome type 1. (Q49764448) (← links)
• PROM1 gene variations in Brazilian patients with macular dystrophy. (Q51186796) (← links)
• Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. (Q55322270) (← links)
• A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies (Q58603551) (← links)
• Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in causing severe retinitis pigmentosa (Q58724745) (← links)
• Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa (Q89890490) (← links)
• Characterizing variants of unknown significance in rhodopsin: A functional genomics approach (Q93051388) (← links)
• Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model (Q103737107) (← links)