Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 8944018 title "Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome" provenance.
- 18570303 title "Characterization of PLA2G6 as a locus for dystonia-parkinsonism." provenance.
- 11851880 title "A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations" provenance.
- 21131976 title "Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome." provenance.
- 21131976 title "Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome." provenance.
- 16575835 title "The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation." provenance.
- 17878207 title "Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan" provenance.
- 17634419 title "New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation." provenance.
- 7839145 title "Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4" provenance.
- 8852667 title "Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria" provenance.
- 10583959 title "Perforin gene defects in familial hemophagocytic lymphohistiocytosis." provenance.
- 2437584 title "Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene." provenance.
- 15108122 title "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)." provenance.
- 19576563 title "Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2." provenance.
- 21473985 title "Loss-of-function mutations in RAB18 cause Warburg micro syndrome." provenance.
- 20400963 title "Mutation of the RAD51C gene in a Fanconi anemia-like disorder." provenance.
- 15028672 title "QRX, a novel homeobox gene, modulates photoreceptor gene expression" provenance.
- 15028672 title "QRX, a novel homeobox gene, modulates photoreceptor gene expression" provenance.
- 15964893 title "Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene." provenance.
- 20148032 title "Rfx6 directs islet formation and insulin production in mice and humans" provenance.
- 8563755 title "Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency" provenance.
- 7846071 title "Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation." provenance.
- 16845400 title "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Gouti�res syndrome and mimic congenital viral brain infection." provenance.
- 16845400 title "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Gouti�res syndrome and mimic congenital viral brain infection." provenance.
- 16845400 title "Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Gouti�res syndrome and mimic congenital viral brain infection." provenance.
- 10932186 title "Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2." provenance.
- 15024725 title "Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis" provenance.
- 17558409 title "The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome" provenance.
- 17558409 title "The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome" provenance.
- 12920076 title "Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy" provenance.
- 19061985 title "Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients" provenance.
- 19061985 title "Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients" provenance.
- 19061985 title "Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients" provenance.
- 8955270 title "Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome" provenance.
- 19200523 title "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities" provenance.
- 19200523 title "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities" provenance.
- 17041604 title "The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia." provenance.
- 16960814 title "A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis" provenance.
- 12692552 title "Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders." provenance.
- 12496757 title "Mutations in SBDS are associated with Shwachman-Diamond syndrome." provenance.
- 12189593 title "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase" provenance.
- 20887961 title "Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome." provenance.
- 12243921 title "Sodium-channel defects in benign familial neonatal-infantile seizures" provenance.
- 17592081 title "SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome" provenance.
- 19763161 title "A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome." provenance.
- 8589714 title "Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1" provenance.
- 8589714 title "Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1" provenance.
- 11013136 title "Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy." provenance.
- 23643385 title "Mutations in SCO2 are associated with autosomal-dominant high-grade myopia" provenance.
- 20436468 title "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome." provenance.
- 8069911 title "Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy" provenance.
- 10974018 title "Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy" provenance.
- 20137777 title "Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome" provenance.
- 21842496 title "A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis" provenance.
- 8609217 title "Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment." provenance.
- 17357085 title "Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome" provenance.
- 22444670 title "SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome." provenance.
- 8528245 title "Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter" provenance.
- 18674745 title "Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice." provenance.
- 15871139 title "Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3" provenance.
- 22327515 title "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis." provenance.
- 15592994 title "Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy." provenance.
- 9398842 title "Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)" provenance.
- 11431687 title "A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis" provenance.
- 16767101 title "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)." provenance.
- 20206331 title "Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54" provenance.
- 2008213 title "Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter" provenance.
- 15031030 title "A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)." provenance.
- 9197268 title "Mutation in the alpha-synuclein gene identified in families with Parkinson's disease" provenance.
- 18591664 title "Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex" provenance.
- 10441344 title "A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies" provenance.
- 12011155 title "Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis." provenance.
- 20920666 title "Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I" provenance.
- 21714643 title "STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis." provenance.
- 17676033 title "Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome." provenance.
- 18469812 title "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy." provenance.
- 18309045 title "TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis" provenance.
- 20727515 title "TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy" provenance.
- 11290323 title "A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins" provenance.
- 11559848 title "The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia." provenance.
- 15735645 title "Mutation in myosin heavy chain 6 causes atrial septal defect" provenance.
- 15731757 title "A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2" provenance.
- 10835638 title "Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination" provenance.
- 16380904 title "A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome" provenance.
- 7894485 title "Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy" provenance.
- 11850618 title "Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function" provenance.
- 11850618 title "Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function" provenance.
- 20512146 title "Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes" provenance.
- 20512146 title "Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes" provenance.
- 15542288 title "Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy" provenance.
- 12531876 title "Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations" provenance.
- 12080485 title "Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype" provenance.
- 11112658 title "Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III." provenance.
- 7920658 title "Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism" provenance.
- 20159111 title "Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy." provenance.
- 10462489 title "Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene." provenance.
- 20074521 title "Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance." provenance.
- 15385443 title "beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities" provenance.
- 17704778 title "Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation" provenance.
- 19304569 title "Mutations in the urocanase gene UROC1 are associated with urocanic aciduria" provenance.