Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- dataset_extraction title "Webcrawled and annotated using indicated method" provenance.
- 20637498 title "SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder" provenance.
- 15044640 title "ABCA3 gene mutations in newborns with fatal surfactant deficiency." provenance.
- 10196363 title "Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)" provenance.
- 9466990 title "Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR" provenance.
- 24791901 title "Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy" provenance.
- 9054934 title "A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy" provenance.
- 17603483 title "Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy." provenance.
- 17603483 title "Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy." provenance.
- 17546029 title "Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis." provenance.
- 11917274 title "A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family" provenance.
- 17011878 title "Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis." provenance.
- 9641683 title "Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17" provenance.
- 9641683 title "Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17" provenance.
- 12904520 title "Inherited deficiency of mannan-binding lectin-associated serine protease 2." provenance.
- 22101682 title "Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)" provenance.
- 15215484 title "Myostatin mutation associated with gross muscle hypertrophy in a child" provenance.
- 2243144 title "Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy" provenance.
- 12594532 title "Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia" provenance.
- 21378985 title "Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss" provenance.
- 19966803 title "A restricted spectrum of NRAS mutations causes Noonan syndrome" provenance.
- 15138885 title "Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency." provenance.
- 9398847 title "Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders" provenance.
- 9398847 title "Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders" provenance.
- 8675689 title "Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase" provenance.
- 10545950 title "CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome" provenance.
- 14673469 title "Mutations responsible for 3-phosphoserine phosphatase deficiency" provenance.
- 15805158 title "Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations" provenance.
- 11748304 title "A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association." provenance.
- 20170896 title "Deletion and point mutations of PTHLH cause brachydactyly type E." provenance.
- 20577567 title "Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene" provenance.
- 10932188 title "Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia" provenance.
- 19648921 title "Mutations in PYCR1 cause cutis laxa with progeroid features" provenance.
- 9888420 title "Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis" provenance.
- 17632510 title "Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth" provenance.
- 7670478 title "A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese" provenance.
- 16236810 title "Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation." provenance.
- 16685654 title "Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy." provenance.
- 20835237 title "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy" provenance.
- 20835237 title "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy" provenance.
- 19465911 title "SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy" provenance.
- 16284256 title "Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome" provenance.
- 9462754 title "GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier" provenance.
- 17129779 title "Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption" provenance.
- 11326334 title "X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome." provenance.
- 22426308 title "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome" provenance.
- 22426308 title "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome" provenance.
- 22426308 title "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome" provenance.
- 22426308 title "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome" provenance.
- 8064810 title "A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia." provenance.
- 3383242 title "Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation" provenance.
- 1631143 title "Molecular basis of AMP deaminase deficiency in skeletal muscle" provenance.
- 17435757 title "Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility." provenance.
- 15805157 title "A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies." provenance.
- 23708187 title "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1." provenance.
- 16287139 title "Identification and functional analysis of CITED2 mutations in patients with congenital heart defects" provenance.
- 16287139 title "Identification and functional analysis of CITED2 mutations in patients with congenital heart defects" provenance.
- 23222958 title "Mutations in GNAL cause primary torsion dystonia." provenance.
- 11163249 title "Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29." provenance.
- 19896112 title "CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila" provenance.
- 19896112 title "CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila" provenance.
- 12360425 title "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q" provenance.
- 9158139 title "Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2" provenance.
- 16141006 title "Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans" provenance.
- 23542697 title "Mutations in DEPDC5 cause familial focal epilepsy with variable foci" provenance.
- 9443879 title "Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome" provenance.
- 8220432 title "Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone" provenance.
- 11389486 title "A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload." provenance.
- 8211187 title "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a" provenance.
- 9497259 title "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q" provenance.
- 17618285 title "Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis" provenance.
- 22101681 title "Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia" provenance.
- 7596406 title "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease" provenance.
- 20929727 title "Gamma-secretase gene mutations in familial acne inversa." provenance.
- 20929727 title "Gamma-secretase gene mutations in familial acne inversa." provenance.
- 20929727 title "Gamma-secretase gene mutations in familial acne inversa." provenance.
- 15122701 title "A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques." provenance.
- 20159109 title "Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly" provenance.
- 12160730 title "X-linked recessive atrophic macular degeneration from RPGR mutation." provenance.
- 11857109 title "X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15." provenance.
- 11283794 title "Null RPGRIP1 alleles in patients with Leber congenital amaurosis." provenance.
- 17486094 title "Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion" provenance.
- 19462466 title "Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease." provenance.
- 12719379 title "Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss" provenance.
- 12068297 title "Identification of SLC39A4, a gene involved in acrodermatitis enteropathica" provenance.
- 19268277 title "Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa." provenance.
- 23542699 title "Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome" provenance.
- 11452125 title "Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation." provenance.
- 16990542 title "SUMO1 haploinsufficiency leads to cleft lip and palate" provenance.
- 19503089 title "Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome." provenance.
- 9207801 title "Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome" provenance.
- 21436445 title "Mutations in the RNA granule component TDRD7 cause cataract and glaucoma" provenance.
- 23176824 title "Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis." provenance.
- 18953340 title "TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy" provenance.
- 2876430 title "Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme" provenance.
- 18037885 title "Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11." provenance.
- 21278747 title "Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies" provenance.
- 17444505 title "C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy." provenance.
- 11788824 title "Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy." provenance.
- 2511845 title "Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene." provenance.