Pages that link to "Q30935460"

The following pages link to The genotypic and phenotypic spectrum of PIGA deficiency (Q30935460):

Displaying 27 items.

• A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model (Q33602746) (← links)
• Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. (Q33815229) (← links)
• Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling (Q34045400) (← links)
• Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. (Q36802217) (← links)
• Exome Sequencing and the Management of Neurometabolic Disorders. (Q37171865) (← links)
• Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. (Q38710860) (← links)
• Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis (Q38895948) (← links)
• What is new in CDG? (Q39292867) (← links)
• Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature (Q39446939) (← links)
• Characterization of SPATA5-related encephalopathy in early childhood (Q41922006) (← links)
• Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. (Q47558052) (← links)
• The role of the clinician in the multi-omics era: are you ready? (Q49835278) (← links)
• A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. (Q52147061) (← links)
• Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. (Q52148968) (← links)
• Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis. (Q52681131) (← links)
• A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. (Q52690111) (← links)
• Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy (Q57023922) (← links)
• X-Linked Sensorineural Hearing Loss: A Literature Review (Q57171854) (← links)
• A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing. (Q64983218) (← links)
• A step closer in defining glycosylphosphatidylinositol anchored proteins role in health and glycosylation disorders. (Q64985527) (← links)
• Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival (Q83231513) (← links)
• Perspectives on Glycosylation and Its Congenital Disorders (Q88238536) (← links)
• Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations (Q89641289) (← links)
• CNS Glycosylphosphatidylinositol Deficiency Results in Delayed White Matter Development, Ataxia, and Premature Death in a Novel Mouse Model (Q90373107) (← links)
• Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS) (Q90707268) (← links)
• Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases (Q93136754) (← links)
• Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia (Q96953668) (← links)