Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 25439728 title "Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome." provenance.
- 24808023 title "Novel (ovario) leukodystrophy related to AARS2 mutations." provenance.
- 25065913 title "ELOVL5 mutations cause spinocerebellar ataxia 38" provenance.
- 24913602 title "Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome." provenance.
- 23842455 title "Mutations in STT3A and STT3B cause two congenital disorders of glycosylation." provenance.
- 23842455 title "Mutations in STT3A and STT3B cause two congenital disorders of glycosylation." provenance.
- 25261934 title "Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features." provenance.
- 7668252 title "Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients" provenance.
- 16020313 title "HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective." provenance.
- 26598328 title "Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia." provenance.
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- 7550355 title "Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy" provenance.
- 3549308 title "Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia." provenance.
- 8254026 title "A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease." provenance.
- 24848981 title "Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes." provenance.
- 25954030 title "Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia." provenance.
- 21551322 title "Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype" provenance.
- 1302608 title "Analysis of mutations at the neurofibromatosis 1 (NF1) locus." provenance.
- 2134734 title "Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients." provenance.
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- 25480986 title "Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes." provenance.
- 25480986 title "Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes." provenance.
- 25938944 title "A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer" provenance.
- 9560156 title "Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism" provenance.
- 25848748 title "Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening." provenance.
- 25848748 title "Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening." provenance.
- 25893599 title "Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita." provenance.
- 1347148 title "Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene" provenance.
- 7942851 title "Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes." provenance.
- 26394807 title "Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression" provenance.
- 26416033 title "GREMLIN 2 Mutations and Dental Anomalies." provenance.
- 3687944 title "Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group." provenance.
- 23849778 title "ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry" provenance.
- 22933543 title "Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein." provenance.
- 24607389 title "Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth" provenance.
- 24039609 title "An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans" provenance.
- 23178126 title "Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation" provenance.
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- 23000145 title "A hypermorphic missense mutation in PLCG2, encoding phospholipase C?2, causes a dominantly inherited autoinflammatory disease with immunodeficiency." provenance.
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- 21524210 title "IRF8 mutations and human dendritic-cell immunodeficiency." provenance.
- 21524210 title "IRF8 mutations and human dendritic-cell immunodeficiency." provenance.
- 21549336 title "Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss." provenance.
- 23731537 title "A recurrent PDGFRB mutation causes familial infantile myofibromatosis." provenance.
- 11179006 title "Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein." provenance.
- 11179006 title "Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein." provenance.
- 26154720 title "Paternally Inherited IGF2 Mutation and Growth Restriction." provenance.
- 25439726 title "Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2." provenance.
- 25589244 title "LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues." provenance.
- 2121734 title "Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding." provenance.
- 2544998 title "Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor." provenance.
- 25814066 title "Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency." provenance.
- 26224535 title "Recessive ITPA mutations cause an early infantile encephalopathy." provenance.
- 27108797 title "Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome." provenance.
- 25329695 title "Abolished InsP3R2 function inhibits sweat secretion in both humans and mice." provenance.
- 12427073 title "Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A." provenance.
- 25620207 title "Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6." provenance.
- 9020846 title "A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome" provenance.
- 26148990 title "A mutation in the Gardos channel is associated with hereditary xerocytosis" provenance.
- F4 title "F4" assertion.
- 24283224 title "ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome" provenance.
- 24958846 title "Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding" provenance.
- 25018096 title "Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy" provenance.
- 25439727 title "A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency." provenance.
- 24714551 title "Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis" provenance.
- dataset_extraction title "Extracted from public dataset" provenance.
- 21368912 title "TSEN54 mutations cause pontocerebellar hypoplasia type 5." provenance.
- dataset_extraction title "Webcrawled and annotated using indicated method" provenance.
- nanopub.RA0cAAP6m2jtyXUjXEoB4DzGydzSi7QUyaQUYP4-78JjA.assertion title "Access authorization" nanopub.RA0cAAP6m2jtyXUjXEoB4DzGydzSi7QUyaQUYP4-78JjA.provenance.
- 16274666 title "Aminoacylase I deficiency: a novel inborn error of metabolism." provenance.
- 9430594 title "A potassium channel mutation in neonatal human epilepsy" provenance.
- 25164438 title "De novo KCNB1 mutations in epileptic encephalopathy." provenance.
- dataset_extraction title "Software Generated." provenance.
- dataset_extraction title "Software Generated." provenance.
- 24995870 title "Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life." provenance.
- 24934289 title "A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement" provenance.
- dataset_extraction title "Webcrawled and annotated using indicated method" provenance.
- 25129144 title "JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia" provenance.
- 24814191 title "Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness." provenance.
- 23188110 title "A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)." provenance.
- 25062452 title "Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency." provenance.
- 24204302 title "tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans" provenance.
- 25087613 title "SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy." provenance.
- 27523608 title "The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity" provenance.
- 26561570 title "Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation." provenance.
- 25012220 title "Early-onset Behr syndrome due to compound heterozygous mutations in OPA1" provenance.
- 26168012 title "Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder" provenance.
- 11754098 title "Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)." provenance.
- 8178819 title "Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase" provenance.
- 9419367 title "Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis" provenance.
- 9419367 title "Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis" provenance.
- 22236196 title "Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions." provenance.
- 8696340 title "Plectin deficiency results in muscular dystrophy with epidermolysis bullosa" provenance.
- 25712130 title "Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex." provenance.
- 24262094 title "Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency" provenance.
- 11431686 title "Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions." provenance.
- 25787132 title "Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder." provenance.
- 19075392 title "A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining." provenance.
- 25466870 title "Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration." provenance.
- 26046367 title "Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy." provenance.