Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 11687801 title "Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy" provenance.
- 18830233 title "Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD." provenance.
- 22282472 title "Evolutionarily assembled cis-regulatory module at a human ciliopathy locus" provenance.
- 21633164 title "Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics" provenance.
- 19508969 title "Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)." provenance.
- 15070570 title "Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy." provenance.
- 12865991 title "Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B" provenance.
- 11273725 title "Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy" provenance.
- 17357087 title "Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome." provenance.
- 11822024 title "Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene" provenance.
- 15879175 title "A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis." provenance.
- 19726882 title "Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I" provenance.
- 22405088 title "Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome." provenance.
- 21964574 title "Mutations in TRPV4 cause an inherited arthropathy of hands and feet." provenance.
- 22499341 title "Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes." provenance.
- 22499341 title "Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes." provenance.
- 20176027 title "Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)." provenance.
- 8276413 title "Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2" provenance.
- 8276413 title "Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2" provenance.
- 12588794 title "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin" provenance.
- 17409324 title "Mutations in VANGL1 associated with neural-tube defects" provenance.
- 15034582 title "Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein" provenance.
- 7795648 title "X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene." provenance.
- 20890279 title "WDR62 is associated with the spindle pole and is mutated in human microcephaly" provenance.
- 11709537 title "Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss" provenance.
- 18179883 title "SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4" provenance.
- 16826533 title "Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" provenance.
- 16826533 title "Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" provenance.
- 9529364 title "Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database." provenance.
- 20179356 title "Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy" provenance.
- 20598274 title "Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome" provenance.
- 11099417 title "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters" provenance.
- 11099417 title "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters" provenance.
- 23001123 title "Mutations in ADAR1 cause Aicardi-Gouti�res syndrome associated with a type I interferon signature" provenance.
- 17030811 title "Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans" provenance.
- 11919560 title "The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein" provenance.
- 9288108 title "Tenascin-X deficiency is associated with Ehlers-Danlos syndrome." provenance.
- 11479597 title "Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia." provenance.
- 17485548 title "The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload." provenance.
- 18304497 title "Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance" provenance.
- 25351951 title "Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy." provenance.
- 26593267 title "Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies" provenance.
- 9771710 title "Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy." provenance.
- 11369620 title "Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency" provenance.
- 10973238 title "Mutations in MKKS cause Bardet-Biedl syndrome." provenance.
- 25938801 title "Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family" provenance.
- 15468086 title "Actin mutations are one cause of congenital fibre type disproportion." provenance.
- 18300303 title "Mutations in TPM3 are a common cause of congenital fiber type disproportion." provenance.
- 17611253 title "Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects" provenance.
- 19409525 title "Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease" provenance.
- 24916380 title "New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11." provenance.
- 21963049 title "Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function." provenance.
- 21937992 title "Deep sequencing reveals 50 novel genes for recessive cognitive disorders." provenance.
- 21937992 title "Deep sequencing reveals 50 novel genes for recessive cognitive disorders." provenance.
- 21937992 title "Deep sequencing reveals 50 novel genes for recessive cognitive disorders." provenance.
- 21937992 title "Deep sequencing reveals 50 novel genes for recessive cognitive disorders." provenance.
- 24114805 title "The ?2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy" provenance.
- 17634448 title "Complement C3 variant and the risk of age-related macular degeneration." provenance.
- 18678321 title "Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes" provenance.
- 18678321 title "Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes" provenance.
- 26888176 title "Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis" provenance.
- 19110214 title "A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan." provenance.
- 10973259 title "Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium." provenance.
- 10973259 title "Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium." provenance.
- 10973259 title "Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium." provenance.
- 9817917 title "Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein" provenance.
- 17273969 title "Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation." provenance.
- 15282353 title "Mutation of perinatal myosin heavy chain associated with a Carney complex variant." provenance.
- 15282353 title "Mutation of perinatal myosin heavy chain associated with a Carney complex variant." provenance.
- 12434154 title "HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome." provenance.
- 12434154 title "HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome." provenance.
- 11704930 title "A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel" provenance.
- 15466643 title "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia" provenance.
- 17273968 title "Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation" provenance.
- 12754703 title "Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy" provenance.
- 18334619 title "The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor." provenance.
- 18334619 title "The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor." provenance.
- 18237401 title "Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia." provenance.
- 11967537 title "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34." provenance.
- 15235026 title "Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome" provenance.
- 17055431 title "CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta" provenance.
- 11773004 title "Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1." provenance.
- 11773004 title "Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1." provenance.
- 12714972 title "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome" provenance.
- 14647275 title "Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis" provenance.
- 16917026 title "Dok-7 mutations underlie a neuromuscular junction synaptopathy." provenance.
- 15133511 title "Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis" provenance.
- 17357080 title "Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement." provenance.
- 14564668 title "Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia." provenance.
- 18394578 title "Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome." provenance.
- 18342287 title "SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome." provenance.
- 15105459 title "Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis" provenance.
- 12089654 title "Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin." provenance.
- 15122512 title "Mutated MESP2 causes spondylocostal dysostosis in humans." provenance.
- 14684688 title "Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects" provenance.
- 22863190 title "A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V." provenance.
- 7670477 title "A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia." provenance.
- 3339136 title "An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina." provenance.
- 9697705 title "Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia" provenance.
- 15657874 title "A 4-bp deletion in the Birt-Hogg-Dub� gene (FLCN) causes dominantly inherited spontaneous pneumothorax." provenance.