Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- distribution title "Access to Nanopublications extracted from WikiPathways, incremental dataset, 20190310" assertion.
- 15543491 title "Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations" provenance.
- 25728773 title "Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4." provenance.
- 24989451 title "EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia." provenance.
- 24784932 title "Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation." provenance.
- 26497905 title "Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease." provenance.
- 27259053 title "Mutations in GANAB, Encoding the Glucosidase II? Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease." provenance.
- 25808372 title "PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia." provenance.
- 26714646 title "KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome." provenance.
- 27694961 title "Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia." provenance.
- 23403903 title "Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability." provenance.
- 26537577 title "LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure" provenance.
- 25918342 title "Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis." provenance.
- 26626369 title "Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration." provenance.
- 24886560 title "Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome." provenance.
- 24886560 title "Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome." provenance.
- 23559409 title "Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy." provenance.
- 25817018 title "Mutations in TUBGCP4 alter microtubule organization via the ?-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy." provenance.
- 25701870 title "Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment" provenance.
- 25712129 title "Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects." provenance.
- 21057504 title "Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency." provenance.
- 26142438 title "Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans" provenance.
- 26387593 title "Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia." provenance.
- 15024691 title "Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q." provenance.
- 12172548 title "Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy" provenance.
- 26200341 title "Lanosterol reverses protein aggregation in cataracts" provenance.
- 19344874 title "Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3." provenance.
- dataset_extraction title "Extracted from public dataset" provenance.
- 7693129 title "Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene" provenance.
- 25180256 title "Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis." provenance.
- 26487268 title "Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization" provenance.
- 26340333 title "Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability." provenance.
- 25612912 title "A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A." provenance.
- 26258302 title "Mutations in DCHS1 cause mitral valve prolapse" provenance.
- 26197441 title "A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment" provenance.
- 10583958 title "An essential role for BLNK in human B cell development" provenance.
- 25865492 title "Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination" provenance.
- 10102904 title "Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study" provenance.
- 25152457 title "Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway" provenance.
- 26841242 title "Vibratory Urticaria Associated with a Missense Variant in ADGRE2." provenance.
- 25735484 title "Syndromic X-linked intellectual disability segregating with a missense variant in RLIM." provenance.
- 25662902 title "CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study" provenance.
- 26264232 title "WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome." provenance.
- 26872069 title "UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia" provenance.
- 26073778 title "Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy." provenance.
- 26077881 title "Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome" provenance.
- 25558065 title "Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families." provenance.
- 25558065 title "Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families." provenance.
- 25558065 title "Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families." provenance.
- 25558065 title "Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families." provenance.
- 25558065 title "Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families." provenance.
- 26755636 title "Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice." provenance.
- 24781754 title "Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5" provenance.
- 27213289 title "NANS-mediated synthesis of sialic acid is required for brain and skeletal development." provenance.
- 23656588 title "Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination" provenance.
- 15322546 title "Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome" provenance.
- 27182967 title "SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7." provenance.
- 26942284 title "Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy" provenance.
- 26996948 title "Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia." provenance.
- 24512911 title "Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas." provenance.
- 25196541 title "A new overgrowth syndrome is due to mutations in RNF125." provenance.
- 22341972 title "Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man" provenance.
- 26908613 title "Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa" provenance.
- 25388005 title "A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A." provenance.
- 25130867 title "Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome." provenance.
- 26307567 title "Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients." provenance.
- 15087508 title "Hereditary early-onset Parkinson's disease caused by mutations in PINK1" provenance.
- 25557232 title "Novel KRT83 and KRT86 mutations associated with monilethrix." provenance.
- 25557232 title "Novel KRT83 and KRT86 mutations associated with monilethrix." provenance.
- 7813012 title "Identification and characterization of a spinal muscular atrophy-determining gene" provenance.
- 26838787 title "LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections." provenance.
- 25865493 title "Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies." provenance.
- 12480927 title "A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation" provenance.
- 11220749 title "Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene." provenance.
- 26196677 title "Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family" provenance.
- 10577905 title "Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots." provenance.
- 9288094 title "A candidate gene for familial Mediterranean fever." provenance.
- dataset_extraction title "Software Generated." provenance.
- 9662404 title "Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I" provenance.
- 26991897 title "Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2." provenance.
- 25581579 title "Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly." provenance.
- 25957469 title "Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3." provenance.
- 25683120 title "De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay." provenance.
- 26849110 title "ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor." provenance.
- 25365219 title "Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity" provenance.
- 26138117 title "Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability." provenance.
- 9771708 title "Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse" provenance.
- 10484776 title "The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II" provenance.
- 16537452 title "Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II." provenance.
- 24462371 title "Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects" provenance.
- 26553276 title "A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia" provenance.
- 27210743 title "Mutations in SLC26A1 Cause Nephrolithiasis." provenance.
- 25804400 title "SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract." provenance.
- 25259927 title "A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases" provenance.
- 27494380 title "Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis." provenance.
- 25620203 title "Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome." provenance.
- 25913037 title "Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction." provenance.
- 25751282 title "Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia" provenance.
- 25691535 title "Galanin pathogenic mutations in temporal lobe epilepsy" provenance.
- 26494905 title "Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis." provenance.