Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 15025726 title "Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome." provenance.
- 3017984 title "Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis)." provenance.
- 12573255 title "Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase." provenance.
- 12618959 title "Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene" provenance.
- 9525984 title "Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy" provenance.
- 22042873 title "Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria." provenance.
- 12566046 title "A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy" provenance.
- 15744043 title "MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta" provenance.
- 8596935 title "Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)" provenance.
- 11159937 title "Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus" provenance.
- 2563167 title "Tissue-specific splicing mutation in acute intermittent porphyria." provenance.
- 9915947 title "Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia." provenance.
- 7719344 title "Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome." provenance.
- 26005867 title "Transcriptional regulator PRDM12 is essential for human pain perception" provenance.
- 24431331 title "A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome" provenance.
- 25758993 title "Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1." provenance.
- 23849775 title "ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy" provenance.
- 20691403 title "Homozygous nonsense mutations in TWIST2 cause Setleis syndrome" provenance.
- 23812780 title "Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia." provenance.
- 14985375 title "Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia" provenance.
- 21079152 title "Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis." provenance.
- 7550320 title "Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa" provenance.
- 9662395 title "Identification of the gene responsible for Best macular dystrophy" provenance.
- 24389050 title "Genomic analysis of primordial dwarfism reveals novel disease genes." provenance.
- 24389050 title "Genomic analysis of primordial dwarfism reveals novel disease genes." provenance.
- 24389050 title "Genomic analysis of primordial dwarfism reveals novel disease genes." provenance.
- 8013627 title "An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency" provenance.
- 2723063 title "Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon" provenance.
- 27745832 title "Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement." provenance.
- 27745832 title "Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement." provenance.
- 25296916 title "CACNA1B mutation is linked to unique myoclonus-dystonia syndrome" provenance.
- 23913001 title "Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism." provenance.
- 8004673 title "Dihydropyridine receptor mutations cause hypokalemic periodic paralysis" provenance.
- 25678555 title "Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors." provenance.
- 7720071 title "Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A" provenance.
- 25683118 title "Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads." provenance.
- 25116801 title "A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates." provenance.
- 9537420 title "Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy" provenance.
- 9182765 title "Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia" provenance.
- 22197273 title "CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia." provenance.
- 23180570 title "Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia." provenance.
- 24748105 title "Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism" provenance.
- 25564561 title "The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes" provenance.
- 23582645 title "Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia." provenance.
- 9099837 title "Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes." provenance.
- 23714752 title "Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6." provenance.
- 25894502 title "COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis." provenance.
- 25152455 title "A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease" provenance.
- 25772934 title "Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome." provenance.
- 2986011 title "Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene." provenance.
- 26783323 title "A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70." provenance.
- 8012360 title "Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms" provenance.
- 23288985 title "Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity." provenance.
- 21075760 title "Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB." provenance.
- 24753537 title "Inherited biallelic CSF3R mutations in severe congenital neutropenia." provenance.
- 15800623 title "Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome." provenance.
- 16043844 title "Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome." provenance.
- 9651244 title "Congenital heart disease caused by mutations in the transcription factor NKX2-5" provenance.
- 23315026 title "VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy" provenance.
- 24614070 title "Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability." provenance.
- 26083206 title "Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections." provenance.
- 20805371 title "Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy." provenance.
- 8458085 title "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes" provenance.
- 15468075 title "Huntington's Disease-like 2 (HDL2) in North America and Japan." provenance.
- 26216346 title "Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome." provenance.
- 26216346 title "Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome." provenance.
- 8782815 title "The molecular basis of alkaptonuria" provenance.
- 24993872 title "Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing." provenance.
- 18423520 title "Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome" provenance.
- 18464934 title "Sodium channel ?1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans" provenance.
- 7719337 title "Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders" provenance.
- 7719337 title "Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders" provenance.
- 11527955 title "Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa." provenance.
- 22795537 title "De novo mutations in MLL cause Wiedemann-Steiner syndrome." provenance.
- 9462747 title "Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy" provenance.
- 25193783 title "Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy." provenance.
- 24530203 title "Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood." provenance.
- 15184617 title "Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder." provenance.
- 14624391 title "Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations." provenance.
- 24482476 title "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders" provenance.
- 24482476 title "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders" provenance.
- 24482476 title "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders" provenance.
- 24482476 title "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders" provenance.
- 24482476 title "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders" provenance.
- 24482476 title "Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders" provenance.
- 26279205 title "Haploinsufficiency of the NF-?B1 Subunit p50 in Common Variable Immunodeficiency." provenance.
- 24925318 title "POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations" provenance.
- 26637980 title "De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome." provenance.
- 25560765 title "Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5." provenance.
- 10581027 title "Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis" provenance.
- 10662808 title "Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation" provenance.
- 25205116 title "Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1." provenance.
- 9295267 title "Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis" provenance.
- 9800905 title "Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene." provenance.
- 16752401 title "High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1" provenance.
- 26183434 title "Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type." provenance.
- 26004199 title "Recessive mutations in the ?3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia." provenance.
- 8513326 title "A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa" provenance.
- 24334604 title "Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice." provenance.
- 24334604 title "Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice." provenance.