Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 19085932 title "Mutation in BAG3 causes severe dominant childhood muscular dystrophy." provenance.
- 9660941 title "Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome" provenance.
- 20547126 title "A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome" provenance.
- 11017805 title "A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy" provenance.
- 1363812 title "Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene" provenance.
- 12373648 title "Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy" provenance.
- 10787449 title "The genetic basis of autosomal dominant familial Mediterranean fever." provenance.
- 9590287 title "Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome" provenance.
- 24270420 title "ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption." provenance.
- 22190596 title "GNAT1 associated with autosomal recessive congenital stationary night blindness." provenance.
- 16441263 title "Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome." provenance.
- 23332916 title "Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia" provenance.
- 21549343 title "Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome" provenance.
- 22784330 title "X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations." provenance.
- 16715098 title "Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism." provenance.
- 8188292 title "Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit" provenance.
- 22448145 title "Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans" provenance.
- 8069912 title "Isolation of a novel gene mutated in Wiskott-Aldrich syndrome" provenance.
- 20045102 title "A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease" provenance.
- 21549344 title "Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy" provenance.
- 25817015 title "Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect." provenance.
- 10407778 title "4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency." provenance.
- 10431236 title "Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency" provenance.
- 10431236 title "Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency" provenance.
- 10431236 title "Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency" provenance.
- 15034580 title "ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating" provenance.
- 17947298 title "Alpha-cardiac actin mutations produce atrial septal defects" provenance.
- 22366783 title "De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome" provenance.
- 22366783 title "De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome" provenance.
- 8640225 title "Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2." provenance.
- 22729224 title "De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes" provenance.
- 22729224 title "De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes" provenance.
- 9700195 title "Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia" provenance.
- 11983712 title "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase" provenance.
- 11106354 title "The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)" provenance.
- 2022742 title "Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia" provenance.
- 14722918 title "Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation." provenance.
- 11971879 title "ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation" provenance.
- 15260953 title "Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism" provenance.
- 20566710 title "Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit" provenance.
- 20170900 title "Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy" provenance.
- 16582908 title "BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus." provenance.
- 11285252 title "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)" provenance.
- 17314340 title "Missense mutations in the BCS1L gene as a cause of the Bj�rnstad syndrome." provenance.
- 18179881 title "Biallelic mutation of BEST1 causes a distinct retinopathy in humans." provenance.
- 19853238 title "Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa" provenance.
- 19249007 title "Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip." provenance.
- 12944416 title "Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration." provenance.
- 20398886 title "Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71" provenance.
- 18926513 title "Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10" provenance.
- 19461874 title "CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait" provenance.
- 16960802 title "Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness" provenance.
- 23055945 title "Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration" provenance.
- 19377476 title "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation" provenance.
- 19377476 title "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation" provenance.
- 19377476 title "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation" provenance.
- 19377476 title "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation" provenance.
- 19377476 title "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation" provenance.
- 19361780 title "Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene" provenance.
- 11435463 title "Familial CD8 deficiency due to a mutation in the CD8 alpha gene." provenance.
- 11090341 title "Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23" provenance.
- 21802063 title "Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors." provenance.
- 15793586 title "A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size" provenance.
- 15793586 title "A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size" provenance.
- 21131973 title "CEP152 is a genome maintenance protein disrupted in Seckel syndrome" provenance.
- 8613545 title "The molecular basis of hereditary complement factor I deficiency." provenance.
- 17701905 title "CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q" provenance.
- 11062464 title "The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy" provenance.
- 8872460 title "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome" provenance.
- 18252226 title "Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders" provenance.
- 18252226 title "Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders" provenance.
- 8755487 title "Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit" provenance.
- 15215498 title "Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement." provenance.
- 21129728 title "Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling." provenance.
- 7981750 title "Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)." provenance.
- 11741829 title "Albers-Sch�nberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene" provenance.
- 15024724 title "Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy." provenance.
- 7479749 title "Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa" provenance.
- 15712225 title "Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases" provenance.
- 8872475 title "A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen" provenance.
- 15864348 title "A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders." provenance.
- 15930420 title "Type II collagen gene variants and inherited osteonecrosis of the femoral head." provenance.
- 14729840 title "Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type." provenance.
- 22209246 title "De novo and inherited mutations in COL4A2, encoding the type IV collagen ?2 chain cause porencephaly." provenance.
- 8170945 title "Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen" provenance.
- 11689488 title "Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy." provenance.
- 10767350 title "A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency" provenance.
- 19956407 title "Molecular characterization of retinitis pigmentosa in Saudi Arabia." provenance.
- 16960806 title "CRYBA4, a novel human cataract gene, is also involved in microphthalmia" provenance.
- 22197934 title "Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids." provenance.
- 22267198 title "Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus." provenance.
- 10192393 title "A common human skin tumour is caused by activating mutations in beta-catenin" provenance.
- 22266938 title "Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities." provenance.
- 22266938 title "Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities." provenance.
- 9695975 title "Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I." provenance.
- 21278736 title "Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease." provenance.
- 14632188 title "A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome" provenance.
- 2019602 title "Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis" provenance.
- 15609246 title "Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria." provenance.
- 21388311 title "A dystroglycan mutation associated with limb-girdle muscular dystrophy." provenance.