Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 11138011 title "Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease." provenance.
- 10471490 title "Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus" provenance.
- 11017065 title "Mutations in GJB6 cause hidrotic ectodermal dysplasia" provenance.
- 15192806 title "Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease" provenance.
- 1915858 title "A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB" provenance.
- 15220921 title "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A" provenance.
- 1702266 title "Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity" provenance.
- 9691087 title "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0" provenance.
- 11073718 title "Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria" provenance.
- 16170316 title "Germline mutations in HRAS proto-oncogene cause Costello syndrome" provenance.
- 9414276 title "HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein (HRG) deficiency" provenance.
- 20673864 title "Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome." provenance.
- 11528396 title "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1" provenance.
- 18179896 title "Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration." provenance.
- 15761194 title "A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene" provenance.
- 22152677 title "Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" provenance.
- 1717985 title "Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism" provenance.
- 9618173 title "A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2" provenance.
- 20346438 title "Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture" provenance.
- 21572413 title "Recessive LAMC3 mutations cause malformations of occipital cortical development." provenance.
- 22152680 title "Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation." provenance.
- 11779494 title "DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency." provenance.
- 18297072 title "Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair." provenance.
- 21763484 title "Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability." provenance.
- 15976030 title "Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein." provenance.
- 16311595 title "Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type." provenance.
- 16167086 title "MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)" provenance.
- 19615667 title "Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia." provenance.
- 19615667 title "Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia." provenance.
- 18940309 title "Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease" provenance.
- 9837812 title "The first nuclear-encoded complex I mutation in a patient with Leigh syndrome." provenance.
- 19881492 title "Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy" provenance.
- 16439204 title "Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly." provenance.
- 10742096 title "NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome" provenance.
- 21288095 title "NT5E mutations and arterial calcifications" provenance.
- 20727516 title "Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria." provenance.
- 11179005 title "Identification of the gene for oral-facial-digital type I syndrome" provenance.
- 15902656 title "Mutations in PIP5K3 are associated with Fran�ois-Neetens mouchet�e fleck corneal dystrophy" provenance.
- 9437321 title "Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene" provenance.
- 15591271 title "Mutation in PITX2 is associated with ring dermoid of the cornea." provenance.
- 21665001 title "Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1." provenance.
- 18834968 title "A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene." provenance.
- 16773570 title "Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure" provenance.
- 11709191 title "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1" provenance.
- 9266722 title "Familial spongiform encephalopathy associated with a novel prion protein gene mutation." provenance.
- 17701896 title "Arts syndrome is caused by loss-of-function mutations in PRPS1" provenance.
- 20691405 title "Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome." provenance.
- 18439547 title "Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis." provenance.
- 14988808 title "Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy" provenance.
- 22365152 title "De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP" provenance.
- 7550341 title "Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency" provenance.
- 7550341 title "Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency" provenance.
- 16228000 title "Mutations in SECISBP2 result in abnormal thyroid hormone metabolism." provenance.
- 11528383 title "Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome." provenance.
- 20920667 title "Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy." provenance.
- 20188343 title "Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta" provenance.
- 14661163 title "A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene" provenance.
- 10391221 title "Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness" provenance.
- 19798730 title "SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis." provenance.
- 24026677 title "The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family." provenance.
- 2365823 title "Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene." provenance.
- 9582072 title "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation" provenance.
- 23434736 title "ARHGDIA: a novel gene implicated in nephrotic syndrome." provenance.
- 3474618 title "Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis" provenance.
- 23620400 title "TNXB mutations can cause vesicoureteral reflux." provenance.
- 11586299 title "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene" provenance.
- 9140395 title "Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome" provenance.
- 9541230 title "Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci" provenance.
- 23345450 title "Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise." provenance.
- 23297365 title "A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene." provenance.
- 10814716 title "KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation" provenance.
- 8434604 title "A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon." provenance.
- 14520415 title "Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome" provenance.
- 11528394 title "Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome" provenance.
- 7493035 title "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome" provenance.
- 7481775 title "Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy" provenance.
- 12213893 title "Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease." provenance.
- 23561848 title "Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria" provenance.
- 23897980 title "Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood." provenance.
- 23122588 title "Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease" provenance.
- 23472759 title "Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities" provenance.
- 21840926 title "Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans" provenance.
- 11743580 title "The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease" provenance.
- 19664747 title "A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions." provenance.
- 9140396 title "Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome" provenance.
- 5254.920602 title "Ontology learning for the Semantic Web" assertion.
- 5254.920602 title "Ontology learning for the Semantic Web" assertion.
- 5254.920602 title "Ontology learning for the Semantic Web" assertion.
- 5254.920602 title "Ontology learning for the Semantic Web" assertion.
- 5254.920602 title "Ontology learning for the Semantic Web" assertion.
- 5254.920602 title "Ontology learning for the Semantic Web" assertion.
- 5254.920602 title "Ontology learning for the Semantic Web" assertion.
- 5254.920602 title "Ontology learning for the Semantic Web" assertion.
- 5254.920602 title "Ontology learning for the Semantic Web" assertion.
- 20865121 title "Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease" provenance.
- 11486088 title "Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9" provenance.
- 23307924 title "Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies." provenance.
- 21651393 title "Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance" provenance.
- 12436245 title "Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)" provenance.
- 12833159 title "Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31" provenance.