Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 12379852 title "Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans" provenance.
- 19592390 title "MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations." provenance.
- 16752391 title "A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria" provenance.
- 11586298 title "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2" provenance.
- 11586298 title "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2" provenance.
- 17668385 title "Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly" provenance.
- 11001585 title "Isolation of a cDNA representing the Fanconi anemia complementation group E gene" provenance.
- 23913003 title "Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice." provenance.
- 20089971 title "Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210" provenance.
- 10973247 title "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C" provenance.
- 10973247 title "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C" provenance.
- 20673863 title "Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome." provenance.
- 20673863 title "Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome." provenance.
- 22077973 title "Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome" provenance.
- 12644968 title "Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia" provenance.
- 24360808 title "Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy." provenance.
- 2829196 title "Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy." provenance.
- 19409519 title "Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice." provenance.
- 21211617 title "NEK1 mutations cause short-rib polydactyly syndrome type majewski" provenance.
- 16205644 title "Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome." provenance.
- 21820100 title "Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease" provenance.
- 19559398 title "WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes" provenance.
- 19559398 title "WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes" provenance.
- 23200864 title "Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome." provenance.
- 16365872 title "SEPN1: associated with congenital fiber-type disproportion and insulin resistance." provenance.
- 21996275 title "Mutation altering the miR-184 seed region causes familial keratoconus with cataract" provenance.
- 23418306 title "Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression" provenance.
- 12719381 title "A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia." provenance.
- 10739764 title "Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy." provenance.
- 20558140 title "Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population." provenance.
- 16055927 title "Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition" provenance.
- 15622315 title "Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study." provenance.
- 20164846 title "A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex." provenance.
- 19732867 title "Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans" provenance.
- 17679951 title "A deletion 3' to the PAX6 gene in familial aniridia cases." provenance.
- 23315540 title "Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy" provenance.
- 22526350 title "Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly." provenance.
- 20237408 title "CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency." provenance.
- 23541342 title "Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome." provenance.
- 8211186 title "Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A." provenance.
- 21109228 title "Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy" provenance.
- 21109224 title "A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts." provenance.
- 9467018 title "Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome" provenance.
- 20137775 title "Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome." provenance.
- 10973256 title "Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex." provenance.
- 10973256 title "Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex." provenance.
- 23602711 title "Mutations in ANTXR1 cause GAPO syndrome." provenance.
- 22930593 title "A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo." provenance.
- 17590087 title "Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans" provenance.
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- 22892528 title "Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion." provenance.
- 23749988 title "Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism." provenance.
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- 9521325 title "Genetic basis and molecular mechanism for idiopathic ventricular fibrillation" provenance.
- 23872636 title "DYX1C1 is required for axonemal dynein assembly and ciliary motility" provenance.
- 21325058 title "Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1." provenance.
- 22305531 title "The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria." provenance.
- 10471494 title "A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation." provenance.
- 15317753 title "Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy" provenance.
- 15317753 title "Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy" provenance.
- 23388215 title "Calmodulin mutations associated with recurrent cardiac arrest in infants." provenance.
- 23388215 title "Calmodulin mutations associated with recurrent cardiac arrest in infants." provenance.
- 19710327 title "A functional null mutation of SCN1B in a patient with Dravet syndrome." provenance.
- 12145748 title "Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene" provenance.
- 24022475 title "ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies" provenance.
- 11784876 title "Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia." provenance.
- 9390563 title "Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor" provenance.
- 9721851 title "Rare loss-of-function mutation of a death receptor gene in head and neck cancer" provenance.
- 23000146 title "Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer." provenance.
- 22581936 title "Clinical application of exome sequencing in undiagnosed genetic conditions" provenance.
- dataset_extraction title "Webcrawled and annotated using indicated method" provenance.
- 7874165 title "Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene" provenance.
- 23141292 title "Defective presynaptic choline transport underlies hereditary motor neuropathy." provenance.
- 12244316 title "Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy" provenance.
- 7619526 title "Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity" provenance.
- 22608502 title "Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity" provenance.
- 9662398 title "Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel" provenance.
- 23246293 title "Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness." provenance.
- 14508504 title "X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome." provenance.
- 10051637 title "Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy" provenance.
- 20177705 title "Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease." provenance.
- 23623388 title "ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity" provenance.
- 8554069 title "Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy." provenance.
- 12434311 title "3-Methylglutaconic aciduria type I is caused by mutations in AUH" provenance.
- 9582123 title "Mutations in the SMAD4/DPC4 gene in juvenile polyposis." provenance.
- 9582123 title "Mutations in the SMAD4/DPC4 gene in juvenile polyposis." provenance.
- 23332920 title "Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy" provenance.
- 2543071 title "Identification of the molecular defect in a family with spondyloepiphyseal dysplasia." provenance.
- 2176164 title "Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene." provenance.
- 23623386 title "Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia" provenance.
- 23141294 title "A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree" provenance.
- 21441919 title "Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease" provenance.
- 11780064 title "Gene defect in ectodermal dysplasia implicates a death domain adapter in development" provenance.
- 22354167 title "Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency." provenance.
- 21540551 title "COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness." provenance.
- 23114594 title "DGAT1 mutation is linked to a congenital diarrheal disorder." provenance.
- 24195502 title "Mutant prolactin receptor and familial hyperprolactinemia." provenance.
- 20617341 title "A homozygous mutation in LTBP2 causes isolated microspherophakia." provenance.
- 15696165 title "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome" provenance.