Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 16227997 title "Mutations in dynamin 2 cause dominant centronuclear myopathy" provenance.
- 21532572 title "Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss" provenance.
- 9718352 title "Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene." provenance.
- 11175790 title "Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP" provenance.
- 12354781 title "Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization." provenance.
- 8630502 title "Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)" provenance.
- 15124102 title "Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome." provenance.
- 12189163 title "Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa" provenance.
- 22466610 title "Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair" provenance.
- 10739753 title "Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene." provenance.
- 22772369 title "FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair." provenance.
- 12973351 title "A novel ubiquitin ligase is deficient in Fanconi anemia" provenance.
- 7954831 title "Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor" provenance.
- 17710231 title "A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis." provenance.
- 9605588 title "FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome." provenance.
- 14991055 title "Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis." provenance.
- 14991055 title "Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis." provenance.
- 14991055 title "Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis." provenance.
- 14991055 title "Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis." provenance.
- 14991055 title "Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis." provenance.
- 19732866 title "Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism." provenance.
- 11078474 title "Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome" provenance.
- 7670469 title "Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts." provenance.
- 17924340 title "Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans" provenance.
- 18425797 title "Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome" provenance.
- 16267323 title "Congenital glutamine deficiency with glutamine synthetase mutations." provenance.
- 12077706 title "Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia" provenance.
- 18997784 title "Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin" provenance.
- 19481194 title "Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia." provenance.
- 20890276 title "Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes." provenance.
- 20890276 title "Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes." provenance.
- 9884342 title "Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency" provenance.
- 10631150 title "Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema." provenance.
- 7670488 title "Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase" provenance.
- 20493458 title "Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene" provenance.
- 17468754 title "IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy." provenance.
- 14762184 title "Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene" provenance.
- 3931219 title "Molecular defects in a human immunoglobulin kappa chain deficiency." provenance.
- 11152664 title "Familial Tetralogy of Fallot caused by mutation in the jagged1 gene." provenance.
- 23086397 title "De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy." provenance.
- 15883926 title "Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems." provenance.
- 16960809 title "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14" provenance.
- 16960809 title "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14" provenance.
- 12915477 title "An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome" provenance.
- 9537324 title "A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction" provenance.
- 1727547 title "Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone." provenance.
- 1883393 title "Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency" provenance.
- 17632512 title "Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes" provenance.
- 7560086 title "Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency." provenance.
- 17334363 title "A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome." provenance.
- 11062461 title "Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa" provenance.
- 14729820 title "Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome" provenance.
- 14729820 title "Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome" provenance.
- 18199800 title "NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis" provenance.
- 11385576 title "Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease" provenance.
- 10369247 title "A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans" provenance.
- 10192380 title "A mutation in NRL is associated with autosomal dominant retinitis pigmentosa" provenance.
- 15494731 title "A de novo mutation affecting human TrkB associated with severe obesity and developmental delay" provenance.
- 16783569 title "A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome." provenance.
- 21358633 title "Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome." provenance.
- 18174396 title "Mutations in the pericentrin (PCNT) gene cause primordial dwarfism" provenance.
- 7493036 title "Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase" provenance.
- 8394174 title "Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa" provenance.
- 2537010 title "Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift" provenance.
- 1972707 title "Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency" provenance.
- 9683594 title "Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders." provenance.
- 9683594 title "Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders." provenance.
- 10441568 title "PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders." provenance.
- 12851857 title "Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation" provenance.
- 20118933 title "Mutations in PNKP cause microcephaly, seizures and defects in DNA repair" provenance.
- 17546030 title "Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia." provenance.
- 14634649 title "Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation" provenance.
- 15300568 title "Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11" provenance.
- 22608503 title "Cant� syndrome is caused by mutations in ABCC9." provenance.
- 20137779 title "A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans." provenance.
- 1715688 title "Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency." provenance.
- 21217755 title "Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature." provenance.
- 21841779 title "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria." provenance.
- 10508519 title "Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy" provenance.
- 12916015 title "Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria." provenance.
- 1302001 title "A mutation in adenylosuccinate lyase associated with mental retardation and autistic features" provenance.
- 16116425 title "Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis" provenance.
- 16116425 title "Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis" provenance.
- 16116425 title "Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis" provenance.
- 22425360 title "Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population." provenance.
- 11007475 title "Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)" provenance.
- 21979934 title "An activating mutation of AKT2 and human hypoglycemia." provenance.
- 11092761 title "Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase" provenance.
- 10947204 title "Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency" provenance.
- 16491085 title "Mutations in antiquitin in individuals with pyridoxine-dependent seizures" provenance.
- 19409524 title "Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene." provenance.
- 8872466 title "A 27 base-pair deletion of the anti-m�llerian type II receptor gene is the most common cause of the persistent m�llerian duct syndrome." provenance.
- 12590260 title "Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia." provenance.
- 12297987 title "Mutations in ANKH cause chondrocalcinosis" provenance.
- 21092923 title "Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia." provenance.
- 20096397 title "Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies." provenance.
- 20096397 title "Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies." provenance.
- 22703880 title "Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1" provenance.
- 10973252 title "Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing" provenance.
- 9500542 title "A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis" provenance.