Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 25676728 title "Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED)." provenance.
- 26691986 title "Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity." provenance.
- 10625078 title "Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations" provenance.
- 2843762 title "Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency." provenance.
- 12736278 title "Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene." provenance.
- 1644925 title "Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency." provenance.
- 24052401 title "Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy." provenance.
- 15894594 title "POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome" provenance.
- 24781755 title "Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans" provenance.
- 24341803 title "Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase." provenance.
- 19234463 title "Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation." provenance.
- 8506365 title "Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient" provenance.
- 27476654 title "De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies." provenance.
- 27476654 title "De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies." provenance.
- 25262651 title "De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies" provenance.
- 23040496 title "Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia" provenance.
- 10775527 title "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia" provenance.
- 22529292 title "Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis." provenance.
- 15877282 title "Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion." provenance.
- 24401050 title "Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome." provenance.
- 19625339 title "Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases." provenance.
- 14566705 title "eIF2B-related disorders: antenatal onset and involvement of multiple organs" provenance.
- 24859200 title "Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human" provenance.
- 10080180 title "Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy" provenance.
- 24814193 title "Mutations in EMP2 cause childhood-onset nephrotic syndrome" provenance.
- 7894484 title "Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1" provenance.
- 20605848 title "Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation" provenance.
- 17088085 title "Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity" provenance.
- 9354791 title "Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22" provenance.
- 2903667 title "Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis." provenance.
- 11479539 title "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13." provenance.
- 17332895 title "Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders" provenance.
- 26996949 title "GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy." provenance.
- 7849702 title "Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene." provenance.
- 2167179 title "A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome" provenance.
- 26246518 title "Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses." provenance.
- 26202976 title "Genomic variations of the mevalonate pathway in porokeratosis." provenance.
- 26202976 title "Genomic variations of the mevalonate pathway in porokeratosis." provenance.
- 26202976 title "Genomic variations of the mevalonate pathway in porokeratosis." provenance.
- 1755842 title "Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene" provenance.
- 16444271 title "Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris." provenance.
- 25351925 title "Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy" provenance.
- 11438811 title "Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease." provenance.
- 27040688 title "Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy" provenance.
- 9428641 title "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib" provenance.
- 23746551 title "Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia." provenance.
- 26387594 title "Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex" provenance.
- 24942156 title "Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28" provenance.
- 24942156 title "Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28" provenance.
- 21220346 title "Loss-of-function mutation in GATA4 causes anomalies of human testicular development" provenance.
- dataset_extraction title "Publicly available dataset" provenance.
- dataset_extraction title "Extracted from public dataset" provenance.
- 24319291 title "KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction." provenance.
- 24699222 title "CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia" provenance.
- 24385928 title "Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression" provenance.
- 11137999 title "Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness" provenance.
- 25420144 title "Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy." provenance.
- 24212882 title "Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis." provenance.
- 24036948 title "A de novo gain-of-function mutation in SCN11A causes loss of pain perception" provenance.
- 25217958 title "Refining analyses of copy number variation identifies specific genes associated with developmental delay." provenance.
- 25217958 title "Refining analyses of copy number variation identifies specific genes associated with developmental delay." provenance.
- 25282101 title "Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm." provenance.
- 21337604 title "Infantile muscular dystrophy in Canadian aboriginals is an ?B-crystallinopathy." provenance.
- nanopub.RApFSf-6RYbJF9O2oqDiGD1nteWav5y-ndFEmsUgIzK6c.assertion title "Indexed in a searchable resource" nanopub.RApFSf-6RYbJF9O2oqDiGD1nteWav5y-ndFEmsUgIzK6c.provenance.
- 24456803 title "The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration." provenance.
- 23579497 title "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia." provenance.
- 20579626 title "Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta." provenance.
- 23290072 title "Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly." provenance.
- 20031595 title "A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype." provenance.
- 23606727 title "A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency." provenance.
- 16826528 title "Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome" provenance.
- 15273283 title "Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function" provenance.
- 25105364 title "Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance." provenance.
- 24305999 title "ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta" provenance.
- 9501215 title "Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria" provenance.
- 24253444 title "Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal" provenance.
- 23936043 title "Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss." provenance.
- 22512483 title "Integrin ?3 mutations with kidney, lung, and skin disease." provenance.
- 24241535 title "Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome." provenance.
- 24387990 title "Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy." provenance.
- 24360804 title "Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation" provenance.
- 23621916 title "Intellectual disability associated with a homozygous missense mutation in THOC6" provenance.
- 22717650 title "A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis." provenance.
- 21965549 title "Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy" provenance.
- 24056717 title "Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development" provenance.
- 24056717 title "Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development" provenance.
- 23579484 title "Exome sequencing reveals CCDC111 mutation associated with high myopia." provenance.
- 23440042 title "Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome." provenance.
- 20493459 title "Haploinsufficiency of TAB2 causes congenital heart defects in humans" provenance.
- 24369382 title "The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation" provenance.
- 24552284 title "Early-onset stroke and vasculopathy associated with mutations in ADA2" provenance.
- 23561846 title "Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability." provenance.
- 22863007 title "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling" provenance.
- 22863007 title "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling" provenance.
- 25401298 title "A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy." provenance.
- 11912256 title "Loss-of-function polymorphism of the human kallikrein gene with reduced urinary kallikrein activity." provenance.
- 19165230 title "Role of HCN4 channel in preventing ventricular arrhythmia." provenance.
- 16049940 title "Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency" provenance.
- 24094744 title "Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia." provenance.
- 24094744 title "Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia." provenance.