Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 11172068 title "Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans" provenance.
- 18653847 title "Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome" provenance.
- 11782989 title "Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms" provenance.
- 8559248 title "A common molecular basis for three inherited kidney stone diseases" provenance.
- 8559248 title "A common molecular basis for three inherited kidney stone diseases" provenance.
- 8559248 title "A common molecular basis for three inherited kidney stone diseases" provenance.
- 9326936 title "Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III" provenance.
- 9326936 title "Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III" provenance.
- 17033971 title "Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement" provenance.
- 11524702 title "Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3." provenance.
- 21310491 title "CLRN1 mutations cause nonsyndromic retinitis pigmentosa." provenance.
- 21397062 title "CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia" provenance.
- 19200527 title "Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta" provenance.
- 21457908 title "A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy." provenance.
- 21035103 title "Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene." provenance.
- 2897363 title "Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype." provenance.
- 7550321 title "Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type" provenance.
- 8541842 title "Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen" provenance.
- 9856844 title "Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations." provenance.
- 19268275 title "Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene." provenance.
- 18499082 title "Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase." provenance.
- 1528846 title "Molecular characterization of inherited carnitine palmitoyltransferase II deficiency" provenance.
- 18055821 title "Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays." provenance.
- 15623792 title "Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene" provenance.
- 15706485 title "Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease." provenance.
- 15914629 title "Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families" provenance.
- 16685649 title "Cathepsin D deficiency is associated with a human neurodegenerative disorder." provenance.
- 18345000 title "A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia." provenance.
- 21675912 title "Mutations in CYP24A1 and idiopathic infantile hypercalcemia." provenance.
- 9486994 title "Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets." provenance.
- 15042513 title "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2" provenance.
- 17384640 title "Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation" provenance.
- 17439987 title "Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P." provenance.
- 11519011 title "Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis" provenance.
- 15356051 title "Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis." provenance.
- 19915526 title "Exome sequencing identifies the cause of a mendelian disorder" provenance.
- 9590285 title "X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions" provenance.
- 22334415 title "Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy." provenance.
- 21496787 title "Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1." provenance.
- 19576565 title "Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies" provenance.
- 12491225 title "Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene" provenance.
- 11835386 title "Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter" provenance.
- 18184961 title "A gain-of-function mutation in the HIF2A gene in familial erythrocytosis" provenance.
- 11228268 title "Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy." provenance.
- 15821733 title "Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion." provenance.
- 10700184 title "Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis" provenance.
- 17924334 title "Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development" provenance.
- 16630169 title "LADD syndrome is caused by FGF10 mutations." provenance.
- 15590700 title "An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia." provenance.
- 17033969 title "A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome" provenance.
- 11592034 title "Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan." provenance.
- 11592034 title "Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan." provenance.
- 21620354 title "Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy." provenance.
- 21507892 title "Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1." provenance.
- 22863194 title "Exome sequencing identifies FUS mutations as a cause of essential tremor." provenance.
- 11326274 title "First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene" provenance.
- 10700180 title "Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1" provenance.
- 21670465 title "Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome." provenance.
- 19409522 title "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency." provenance.
- 16511605 title "Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature" provenance.
- 11470490 title "Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)." provenance.
- 11470490 title "Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)." provenance.
- 16790700 title "Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation" provenance.
- 19056803 title "Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations" provenance.
- 20537300 title "GJC2 missense mutations cause human lymphedema" provenance.
- 8673138 title "Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness" provenance.
- 9536089 title "Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2" provenance.
- 9116284 title "Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder" provenance.
- 15044805 title "G protein-coupled receptor-dependent development of human frontal cortex" provenance.
- 20797690 title "Mutations in DHDPSL are responsible for primary hyperoxaluria type III" provenance.
- 18394579 title "A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family." provenance.
- 15122254 title "Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy." provenance.
- 15122254 title "Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy." provenance.
- 15122253 title "Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy" provenance.
- 11898127 title "Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60" provenance.
- 15843405 title "Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1" provenance.
- 15924140 title "Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations." provenance.
- 22503633 title "Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations" provenance.
- 11242109 title "X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling" provenance.
- 16818673 title "X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production." provenance.
- 21741611 title "Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth" provenance.
- 20473311 title "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability." provenance.
- 2063866 title "Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia" provenance.
- 17054399 title "Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2" provenance.
- 17054399 title "Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2" provenance.
- 20920668 title "Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy." provenance.
- 21109227 title "Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores." provenance.
- 10973849 title "Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2" provenance.
- 11371347 title "Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome" provenance.
- 15937479 title "Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder." provenance.
- 10802664 title "Mutations in KERA, encoding keratocan, cause cornea plana" provenance.
- 7833921 title "Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)" provenance.
- 17160902 title "Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia" provenance.
- 11389829 title "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta" provenance.
- 7493031 title "Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus." provenance.
- 15385440 title "L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1" provenance.
- 21885030 title "High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2." provenance.
- 16385447 title "Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype" provenance.
- 14740318 title "Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome." provenance.
- 12525712 title "Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C." provenance.