Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 22290657 title "Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features." provenance.
- 19836009 title "Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature." provenance.
- 23934111 title "De novo mutations in epileptic encephalopathies." provenance.
- 23934111 title "De novo mutations in epileptic encephalopathies." provenance.
- 19520207 title "Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa" provenance.
- 9806553 title "Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction" provenance.
- 8105683 title "Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)." provenance.
- 10972294 title "Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)." provenance.
- 9883725 title "Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia." provenance.
- 23519211 title "Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry." provenance.
- 23453667 title "Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan" provenance.
- 10835629 title "Identification of the familial cylindromatosis tumour-suppressor gene" provenance.
- 15122711 title "POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion." provenance.
- 1944596 title "Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism" provenance.
- 21311022 title "K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension." provenance.
- 9425234 title "A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1" provenance.
- 18817903 title "Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood." provenance.
- 10319867 title "Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome" provenance.
- 22633399 title "RAD21 mutations cause a human cohesinopathy." provenance.
- 7701349 title "A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia" provenance.
- 1901826 title "Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome" provenance.
- 20362275 title "Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta." provenance.
- 24075189 title "Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia." provenance.
- 22683087 title "TMEM165 deficiency causes a congenital disorder of glycosylation" provenance.
- 23664116 title "Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy." provenance.
- 18614783 title "Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation." provenance.
- 23736855 title "Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy" provenance.
- 12837695 title "A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly" provenance.
- 9856524 title "Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus" provenance.
- 15293270 title "SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I." provenance.
- 11355018 title "The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6." provenance.
- 19535795 title "Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation." provenance.
- 21683323 title "Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement." provenance.
- 23455423 title "Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS" provenance.
- 23455423 title "Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS" provenance.
- 23455423 title "Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS" provenance.
- 22077972 title "Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome." provenance.
- 9916809 title "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome" provenance.
- 9652903 title "A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads." provenance.
- 20826270 title "Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans" provenance.
- 23418308 title "Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis" provenance.
- 24697219 title "De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy." provenance.
- 25485838 title "Mutations in the deubiquitinase gene USP8 cause Cushing's disease." provenance.
- 23063620 title "Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization" provenance.
- 9771704 title "Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene" provenance.
- 15703195 title "Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11" provenance.
- 23770608 title "An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy" provenance.
- 8797827 title "Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease" provenance.
- dataset_extraction title "Extracted from public dataset" provenance.
- 3001143 title "An intragenic deletion of the factor IX gene in a family with hemophilia B." provenance.
- 2790181 title "Molecular characterization of human factor XSan Antonio." provenance.
- 2882793 title "Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme." provenance.
- 8028615 title "A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I" provenance.
- 9806548 title "The Fanconi anaemia group G gene FANCG is identical with XRCC9" provenance.
- 24899048 title "Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration." provenance.
- 7773297 title "Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3." provenance.
- 9042914 title "A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome." provenance.
- 9585583 title "Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations." provenance.
- 26505888 title "Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy." provenance.
- 26505888 title "Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy." provenance.
- 24623842 title "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." provenance.
- 25362483 title "Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes." provenance.
- 9845520 title "A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors" provenance.
- 25470569 title "Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation." provenance.
- 23951358 title "A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia." provenance.
- 12457340 title "Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia" provenance.
- 12457340 title "Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia" provenance.
- 16816024 title "A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome" provenance.
- 12522116 title "A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill." provenance.
- 23993195 title "De Novo mutations in GNAO1, encoding a G?o subunit of heterotrimeric G proteins, cause epileptic encephalopathy" provenance.
- 11067869 title "A GNAS1 imprinting defect in pseudohypoparathyroidism type IB." provenance.
- 24706940 title "Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia." provenance.
- 24312598 title "Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia" provenance.
- 24272827 title "GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy." provenance.
- 25700176 title "Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways." provenance.
- 18779591 title "Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors." provenance.
- 23086801 title "A novel regulatory defect in the branched-chain ?-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease." provenance.
- 23313374 title "LRIG2 mutations cause urofacial syndrome" provenance.
- 23084291 title "Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency." provenance.
- 2234061 title "Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain" provenance.
- 7795640 title "Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux." provenance.
- 10406984 title "Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy." provenance.
- 21651516 title "5-Oxoprolinase deficiency: report of the first human OPLAH mutation." provenance.
- 23084290 title "A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss." provenance.
- dataset_extraction title "Webcrawled and annotated using indicated method" provenance.
- nanopub.RA6ETcEOEBQ2cP7rxPHcdf5h2RXHZZpdPvehohpiWABAQ.assertion title "Access Protocol" nanopub.RA6ETcEOEBQ2cP7rxPHcdf5h2RXHZZpdPvehohpiWABAQ.provenance.
- 25915598 title "Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome." provenance.
- 25915598 title "Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome." provenance.
- 8298639 title "The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene." provenance.
- 12428212 title "Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency" provenance.
- 12499475 title "Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy" provenance.
- 11810299 title "Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism." provenance.
- 12577059 title "Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease" provenance.
- 16385460 title "A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)." provenance.
- 14573733 title "The GPR54 gene as a regulator of puberty" provenance.
- 9360932 title "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous" provenance.
- 10443680 title "Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma." provenance.
- 8896559 title "Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles" provenance.
- 9854053 title "Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A." provenance.
- 12717447 title "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes" provenance.