Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 21552264 title "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes." provenance.
- 21552264 title "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes." provenance.
- 18272894 title "A GPR54-activating mutation in a patient with central precocious puberty." provenance.
- 19375057 title "Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation." provenance.
- 9171831 title "Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy" provenance.
- 7539673 title "Keratin 16 and keratin 17 mutations cause pachyonychia congenita" provenance.
- 7539673 title "Keratin 16 and keratin 17 mutations cause pachyonychia congenita" provenance.
- 9008238 title "Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex." provenance.
- 19067344 title "Brain involvement in muscular dystrophies with defective dystroglycan glycosylation." provenance.
- 14662268 title "Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction" provenance.
- 12075506 title "Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C" provenance.
- 11381255 title "Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy." provenance.
- 20381006 title "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome" provenance.
- 12579474 title "Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density." provenance.
- 12579474 title "Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density." provenance.
- 12579474 title "Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density." provenance.
- 16439621 title "Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome." provenance.
- 17369503 title "The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene." provenance.
- 14638541 title "Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries)." provenance.
- 20950787 title "Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex." provenance.
- 17564970 title "The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter" provenance.
- 8808595 title "Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development" provenance.
- 18327255 title "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome" provenance.
- 18327255 title "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome" provenance.
- 11431697 title "Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome" provenance.
- 21907016 title "A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy." provenance.
- 15645389 title "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy." provenance.
- 16868251 title "MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients." provenance.
- 21786366 title "Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy." provenance.
- 17873122 title "Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation." provenance.
- 8106171 title "A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis" provenance.
- 20970105 title "Defective mitochondrial mRNA maturation is associated with spastic ataxia." provenance.
- 8968736 title "Defects in human methionine synthase in cblG patients" provenance.
- 15496425 title "MUSK, a new target for mutations causing congenital myasthenic syndrome." provenance.
- 18669862 title "Pyogenic bacterial infections in humans with MyD88 deficiency" provenance.
- 21480433 title "A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14" provenance.
- 11114175 title "Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene" provenance.
- 15998695 title "Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy" provenance.
- 11590545 title "Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes." provenance.
- 12621333 title "Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9." provenance.
- 11023810 title "Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9" provenance.
- 18724368 title "MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity." provenance.
- 11468689 title "MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss." provenance.
- 8040340 title "The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria" provenance.
- 11220739 title "Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy" provenance.
- 12032915 title "Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes" provenance.
- 22842230 title "Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration" provenance.
- 10080184 title "Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis" provenance.
- 10080184 title "Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis" provenance.
- 17668388 title "A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN." provenance.
- 12244321 title "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin" provenance.
- 1704018 title "Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance" provenance.
- 10884226 title "Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy" provenance.
- 20887963 title "Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1." provenance.
- 19246354 title "Mutations in NR5A1 associated with ovarian insufficiency" provenance.
- 10710235 title "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome" provenance.
- 16582901 title "A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function" provenance.
- 15846561 title "Heterozygous mutations of OTX2 cause severe ocular malformations." provenance.
- 14570705 title "PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23" provenance.
- 11431692 title "Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria" provenance.
- 8733134 title "Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)" provenance.
- 7847371 title "X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit" provenance.
- 11600883 title "Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2" provenance.
- 22444671 title "Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome." provenance.
- 9620774 title "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD" provenance.
- 9620774 title "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD" provenance.
- 9090535 title "G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP." provenance.
- 16783378 title "PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron." provenance.
- 16783378 title "PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron." provenance.
- 17564964 title "The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset." provenance.
- 9242524 title "Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis" provenance.
- 10330345 title "A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness." provenance.
- 17557300 title "Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation." provenance.
- 17557300 title "Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation." provenance.
- 17187067 title "The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy." provenance.
- 18313024 title "Neuropathy target esterase gene mutations cause motor neuron disease" provenance.
- 15772097 title "Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase" provenance.
- 3029074 title "A human purine nucleoside phosphorylase deficiency caused by a single base change" provenance.
- 16685652 title "Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia" provenance.
- 22036171 title "Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy." provenance.
- 19299310 title "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study" provenance.
- 14758361 title "Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome" provenance.
- 14758361 title "Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome" provenance.
- 7637805 title "Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis" provenance.
- 11773002 title "Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa" provenance.
- 20021999 title "Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2" provenance.
- 22120146 title "Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias." provenance.
- 21397065 title "Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease" provenance.
- 2060627 title "Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease" provenance.
- 17436247 title "Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway" provenance.
- 17186461 title "Mutations of presenilin genes in dilated cardiomyopathy and heart failure." provenance.
- 17186461 title "Mutations of presenilin genes in dilated cardiomyopathy and heart failure." provenance.
- 11941477 title "Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly" provenance.
- 22652534 title "Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus." provenance.
- 16532399 title "Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome." provenance.
- 9630231 title "Partial V(D)J recombination activity leads to Omenn syndrome" provenance.
- 10581022 title "Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa." provenance.
- 20826268 title "Dominant mutations in RP1L1 are responsible for occult macular dystrophy." provenance.
- 12032732 title "Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa." provenance.
- 20116044 title "Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia." provenance.