Pages that link to "Q48959079"

The following pages link to Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood (Q48959079):

Displaying 43 items.

• Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies (Q24336897) (← links)
• Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature (Q34047884) (← links)
• Genes and genetic testing in hereditary ataxias. (Q34347658) (← links)
• Exome sequencing in undiagnosed inherited and sporadic ataxias (Q35014864) (← links)
• Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia (Q35073865) (← links)
• Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia (Q36330076) (← links)
• Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies (Q36671207) (← links)
• Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings (Q36757115) (← links)
• Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population (Q36865263) (← links)
• Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. (Q37257128) (← links)
• Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation (Q37344755) (← links)
• Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines (Q37558494) (← links)
• Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing (Q38415567) (← links)
• Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing (Q38569822) (← links)
• Eye movement disorders are an early manifestation of CACNA1A mutations in children (Q38712800) (← links)
• IP3 receptor mutations and brain diseases in human and rodents. (Q39140608) (← links)
• Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias (Q39486694) (← links)
• Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population (Q39730574) (← links)
• Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders (Q39778164) (← links)
• Molecular genetic analysis of 30 families with Joubert syndrome (Q40643638) (← links)
• Prevalence of spinocerebellar ataxia 36 in a US population (Q41048911) (← links)
• Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome. (Q42361619) (← links)
• Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias (Q47139419) (← links)
• LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues (Q47573616) (← links)
• Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis. (Q47930605) (← links)
• Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia. (Q48088822) (← links)
• De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance (Q48135815) (← links)
• A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2 signal patterns. (Q48269069) (← links)
• Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene (Q48270136) (← links)
• Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. (Q50521784) (← links)
• Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition. (Q53572045) (← links)
• Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome. (Q55402530) (← links)
• Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan (Q59697592) (← links)
• Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients (Q60045367) (← links)
• Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias (Q64044238) (← links)
• Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes (Q89144607) (← links)
• Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies (Q89575503) (← links)
• Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies (Q89963752) (← links)
• A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders (Q91137356) (← links)
• Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey (Q93008306) (← links)
• Clinical application of next-generation sequencing to the practice of neurology (Q93073745) (← links)
• Aberrant IP3 receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29 (Q93079752) (← links)
• Genetic background of ataxia in children younger than 5 years in Finland (Q97425192) (← links)