Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 20116044 title "Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia." provenance.
- 9326935 title "Positional cloning of the gene associated with X-linked juvenile retinoschisis" provenance.
- 22232211 title "Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12" provenance.
- 9697698 title "Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B." provenance.
- 14523039 title "Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)" provenance.
- 10545952 title "Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene" provenance.
- 19628817 title "SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma" provenance.
- 20551992 title "Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase." provenance.
- 20484225 title "SDHA is a tumor suppressor gene causing paraganglioma." provenance.
- 16980979 title "Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking." provenance.
- 10517635 title "Familial dementia caused by polymerization of mutant neuroserpin" provenance.
- 15106121 title "DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)" provenance.
- 14770181 title "Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2." provenance.
- 19100526 title "Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer." provenance.
- 14574644 title "Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy." provenance.
- 10369266 title "Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly" provenance.
- 8640224 title "Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2" provenance.
- 10590411 title "Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport" provenance.
- 16116111 title "Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures" provenance.
- 19641205 title "AGC1 deficiency associated with global cerebral hypomyelination." provenance.
- 10369256 title "Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter" provenance.
- 8571951 title "Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias." provenance.
- 11524734 title "Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea" provenance.
- 21832227 title "Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect." provenance.
- 22243965 title "Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin." provenance.
- 17220209 title "Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy" provenance.
- 16227998 title "Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1" provenance.
- 9312167 title "Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene" provenance.
- 19478460 title "Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia." provenance.
- 18784102 title "NHERF1 mutations and responsiveness of renal parathyroid hormone" provenance.
- 22197487 title "Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy." provenance.
- 22158539 title "Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome." provenance.
- 22366787 title "Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome." provenance.
- 11799392 title "Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia." provenance.
- 22279524 title "Genetic mapping and exome sequencing identify variants associated with five novel diseases" provenance.
- 22279524 title "Genetic mapping and exome sequencing identify variants associated with five novel diseases" provenance.
- 22279524 title "Genetic mapping and exome sequencing identify variants associated with five novel diseases" provenance.
- 22279524 title "Genetic mapping and exome sequencing identify variants associated with five novel diseases" provenance.
- 22279524 title "Genetic mapping and exome sequencing identify variants associated with five novel diseases" provenance.
- 20960469 title "Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract" provenance.
- 12740761 title "Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia" provenance.
- 12740761 title "Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia" provenance.
- 19185281 title "Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea" provenance.
- 1541680 title "A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin" provenance.
- 16497722 title "SRPX2 mutations in disorders of language cortex and cognition." provenance.
- 12590259 title "Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency." provenance.
- 17273977 title "Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation" provenance.
- 21835308 title "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation" provenance.
- 14585638 title "Role of TBX1 in human del22q11.2 syndrome" provenance.
- 14585638 title "Role of TBX1 in human del22q11.2 syndrome" provenance.
- 14585638 title "Role of TBX1 in human del22q11.2 syndrome" provenance.
- 12507422 title "The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy" provenance.
- 9590290 title "Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment" provenance.
- 18423521 title "TFAP2A mutations result in branchio-oculo-facial syndrome" provenance.
- 11110675 title "Molecular characterization of a case of atransferrinemia" provenance.
- 16652336 title "A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3." provenance.
- 15235604 title "Heterozygous TGFBR2 mutations in Marfan syndrome." provenance.
- 7824952 title "Mutations of keratinocyte transglutaminase in lamellar ichthyosis" provenance.
- 8381821 title "An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype." provenance.
- 18252230 title "TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita" provenance.
- 18252230 title "TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita" provenance.
- 18408718 title "Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)" provenance.
- 18606301 title "Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations" provenance.
- 12592607 title "Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes" provenance.
- 12592607 title "Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes" provenance.
- 10839977 title "Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27." provenance.
- 11462173 title "p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation." provenance.
- 16845398 title "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Gouti�res syndrome at the AGS1 locus" provenance.
- 16606853 title "Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)" provenance.
- 19732863 title "Acute infantile liver failure due to mutations in the TRMU gene." provenance.
- 18587396 title "Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia." provenance.
- 20037587 title "Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4." provenance.
- 18711368 title "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia." provenance.
- 18711368 title "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia." provenance.
- 18711368 title "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia." provenance.
- 18711368 title "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia." provenance.
- 21258341 title "TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum." provenance.
- 21258341 title "TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum." provenance.
- 12145747 title "Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin" provenance.
- 12145747 title "Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin" provenance.
- 19465910 title "Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria" provenance.
- 17160893 title "Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu" provenance.
- 17668063 title "Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy" provenance.
- 16311597 title "Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)" provenance.
- 11061796 title "Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene." provenance.
- 12471200 title "Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy" provenance.
- 12471200 title "Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy" provenance.
- 21145000 title "Exome sequencing reveals VCP mutations as a cause of familial ALS" provenance.
- 12730828 title "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport" provenance.
- 11498583 title "Human hypertension caused by mutations in WNK kinases" provenance.
- 11498583 title "Human hypertension caused by mutations in WNK kinases" provenance.
- 23499309 title "Mutations in WNT1 cause different forms of bone fragility" provenance.
- 15317892 title "A WNT4 mutation associated with M�llerian-duct regression and virilization in a 46,XX woman" provenance.
- 16429158 title "Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy" provenance.
- 18611983 title "Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia." provenance.
- 14517948 title "Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot." provenance.
- 12913070 title "Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia" provenance.
- 22922874 title "Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism" provenance.
- 16685646 title "A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia" provenance.
- 9916847 title "Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB" provenance.