Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 23596069 title "Targeted exome sequencing of suspected mitochondrial disorders." provenance.
- 14695536 title "A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency" provenance.
- 20524213 title "Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)" provenance.
- 12244320 title "Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk" provenance.
- 15486090 title "Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome." provenance.
- 23993198 title "Mutations in IMPG1 cause vitelliform macular dystrophies." provenance.
- 9062355 title "Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)" provenance.
- 16276422 title "A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection." provenance.
- 10385124 title "The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta" provenance.
- 22693284 title "Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability." provenance.
- 22174841 title "Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy." provenance.
- 22286171 title "Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations." provenance.
- 12618961 title "Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene." provenance.
- 18452889 title "A defect in the TUSC3 gene is associated with autosomal recessive mental retardation." provenance.
- 23830514 title "Mutations in LRPAP1 are associated with severe myopia in humans" provenance.
- 23849777 title "Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa." provenance.
- 23604097 title "Mutations of the SCN4B-encoded sodium channel ?4 subunit in familial atrial fibrillation." provenance.
- 9869665 title "Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase" provenance.
- 20829227 title "Mutations in the neuronal �-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects" provenance.
- 10746614 title "Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia" provenance.
- 21734151 title "Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans" provenance.
- 15024693 title "Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma" provenance.
- 12058348 title "Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene" provenance.
- 10465113 title "Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation." provenance.
- 20226437 title "A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis" provenance.
- 23785305 title "BMS1 is mutated in aplasia cutis congenita" provenance.
- 8841189 title "A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness" provenance.
- 18252212 title "Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways." provenance.
- 12058097 title "HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration" provenance.
- 22387013 title "Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB." provenance.
- 23508780 title "Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes." provenance.
- 9462749 title "SOX10 mutations in patients with Waardenburg-Hirschsprung disease" provenance.
- 23040497 title "Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death" provenance.
- 11891689 title "Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene." provenance.
- 22031863 title "A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene." provenance.
- 10192385 title "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness" provenance.
- 11404820 title "Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma" provenance.
- 17503333 title "RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity" provenance.
- 10441323 title "Spectrum of novel ATP2A2 mutations in patients with Darier's disease." provenance.
- 20157829 title "Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly." provenance.
- 19808477 title "Mutations in sodium channel ?1- and ?2-subunits associated with atrial fibrillation" provenance.
- 19808477 title "Mutations in sodium channel ?1- and ?2-subunits associated with atrial fibrillation" provenance.
- 9529361 title "A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene." provenance.
- 21487076 title "Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis" provenance.
- 20181727 title "A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia." provenance.
- 22956686 title "Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy" provenance.
- 15146185 title "NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome" provenance.
- 18752453 title "Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus." provenance.
- 15208270 title "The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration." provenance.
- 23746546 title "Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy" provenance.
- 16155110 title "Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy." provenance.
- 12709789 title "A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis" provenance.
- 10430757 title "Desmin mutation responsible for idiopathic dilated cardiomyopathy." provenance.
- 12966029 title "Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan" provenance.
- 23768516 title "Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy." provenance.
- 7690964 title "Positional cloning of the hereditary renal carcinoma 3;8 chromosome translocation breakpoint." provenance.
- 21620353 title "Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature" provenance.
- 21620353 title "Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature" provenance.
- 11836498 title "Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene" provenance.
- 9719368 title "Studies of FRAXA and FRAXE in women with premature ovarian failure." provenance.
- 19667185 title "Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction." provenance.
- 12845333 title "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5" provenance.
- 18728160 title "A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency" provenance.
- 12055248 title "A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans." provenance.
- 15773042 title "A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans." provenance.
- 11788828 title "Identification of a variant associated with adult-type hypolactasia" provenance.
- 16964263 title "Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase" provenance.
- 9140401 title "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)" provenance.
- 12754508 title "Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin" provenance.
- 11668429 title "Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews" provenance.
- 21177507 title "Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome." provenance.
- 16033917 title "Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus" provenance.
- 19118816 title "Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS." provenance.
- 9697692 title "Positional cloning of the gene for X-linked retinitis pigmentosa 2" provenance.
- 17557076 title "Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease" provenance.
- 12134148 title "SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia." provenance.
- 19864672 title "A homozygous CARD9 mutation in a family with susceptibility to fungal infections" provenance.
- 1401057 title "Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter" provenance.
- 12574942 title "Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH)." provenance.
- 23261301 title "Mutations in ECEL1 cause distal arthrogryposis type 5D" provenance.
- 10535733 title "Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome" provenance.
- 10535733 title "Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome" provenance.
- 8799157 title "The genetic basis of epidermolysis bullosa simplex with mottled pigmentation." provenance.
- 15107842 title "Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder" provenance.
- 20137776 title "Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1" provenance.
- 8589725 title "A human chondrodysplasia due to a mutation in a TGF-beta superfamily member" provenance.
- 17080092 title "XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome" provenance.
- 21211618 title "Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2." provenance.
- 18439546 title "Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ." provenance.
- 10952871 title "A novel nemaline myopathy in the Amish caused by a mutation in troponin T1" provenance.
- 15489854 title "Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis" provenance.
- 23217329 title "Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly." provenance.
- 20137778 title "Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment" provenance.
- 12952869 title "Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases" provenance.
- 7704029 title "A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy" provenance.
- 1975179 title "Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia." provenance.
- 8111381 title "Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein" provenance.
- 15262732 title "Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis." provenance.
- 23746549 title "Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy." provenance.
- 17564974 title "Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome." provenance.