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Systematic reanalysis of copy number losses of uncertain clinical significance
Systematic reanalysis of copy number losses of uncertain clinical significance
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Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
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Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
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Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
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Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service
Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service
IntroductionWithin the English National Health Service (NHS), all people with motor neuron disease (pwMND) are eligible fo...
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
WHAT IS ALREADY KNOWN ON THIS TOPICHOW THIS STUDY MIGHT AFFECT RESEARCH, PRACTICE OR POLICYThe ZFHX3 gene is a novel patho...
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
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Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis
IntroductionScoliosis, characterized by a lateral curvature of the spine, represents a multifactorial disorder highly infl...
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
IntroductionTalipes equinovarus (TEV (MIM: 119800)), or clubfoot, is a structural abnormality of leg, ankle and foot, resu...
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
WHAT IS ALREADY KNOWN ON THIS TOPICPlexins are large transmembrane proteins that act as receptors for the semaphorin famil...
BRCA awareness and testing experience in the UK Jewish population: a qualitative study
BRCA awareness and testing experience in the UK Jewish population: a qualitative study
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Extent of investigation and management of cases of 'unexplained mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus
Extent of investigation and management of cases of 'unexplained mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus
IntroductionLynch syndrome is defined by the identification of constitutional pathogenic variants in four mismatch repair ...
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
IntroductionRubinstein-Taybi syndrome (RTS) (MIM (Mendelian Inheritance in Man) #180849; #613684; #610543) is a multisyste...
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
WHAT IS ALREADY KNOWN ON THIS TOPICCurrently available enzyme replacement therapies (ERTs) benefit patients with Fabry dis...
Comment to: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study--determination of immunogenicity
Comment to: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study--determination of immunogenicity
With great interest, we followed the recent studies by Linhart and colleagues1 as well as Wallace and colleagues.2 Especia...
Response to commentary: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study - determination of immunogenicity
Response to commentary: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study - determination of immunogenicity
We appreciate the commentary by Lenders and Brand1 that addressed the determination of immunogenicity of pegunigalsidase a...
Genotype and phenotype correlation of PHACTR1-related neurological disorders
Genotype and phenotype correlation of PHACTR1-related neurological disorders
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De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
Fetal hydrops as detected by prenatal ultrasound usually carries a poor prognosis depending on the underlying aetiology. W...
GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort
GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort
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ZNF142 mutation causes sex-dependent neurologic disorder
ZNF142 mutation causes sex-dependent neurologic disorder
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Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
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Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder
Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder
Pogo transposable element-derived protein with ZNF domain (POGZ) gene encodes a chromatin regulator and rare variants on t...
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
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Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
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Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum
Abstract Background Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by (epi)genetic alterations at 11p1...
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
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Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants
Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants
Up to 15%–20% of children with sarcomeric hypertrophic cardiomyopathy (HCM) have disease-causing variants in genes coding ...
Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers
Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers
Formin homology 2 domain-containing 3 (FHOD3) gene has emerged as one of the main non-sarcomeric genes associated with hyp...
Breast cancer risk in NF1-deleted patients
Breast cancer risk in NF1-deleted patients
Neurofibromatosis type 1 (NF1, OMIM #162200) is a genetic condition with an autosomal dominant transmission. The disorder ...
Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review
Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review
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