Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 26063658 title "Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease." provenance.
- 7638622 title "Candidate gene for the chromosome 1 familial Alzheimer's disease locus" provenance.
- dataset_extraction title "Extracted from public dataset" provenance.
- 25439098 title "Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome." provenance.
- 26681308 title "A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51" provenance.
- 24777941 title "Mutations in RARS cause hypomyelination" provenance.
- 25910211 title "Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease" provenance.
- 7951322 title "Identification and characterization of the gene causing type 1 spinocerebellar ataxia." provenance.
- 27355534 title "Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease" provenance.
- 10525050 title "Mutations in Igalpha (CD79a) result in a complete block in B-cell development." provenance.
- 25865495 title "Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures." provenance.
- 25381298 title "Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability." provenance.
- 24886874 title "De novo SOX11 mutations cause Coffin-Siris syndrome" provenance.
- 26027498 title "Recessive osteogenesis imperfecta caused by missense mutations in SPARC." provenance.
- 9635427 title "Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease" provenance.
- 26936507 title "A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies." provenance.
- 23729695 title "Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2." provenance.
- 9103196 title "Positional cloning of the gene for multiple endocrine neoplasia-type 1" provenance.
- 25941349 title "A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss." provenance.
- 26522471 title "Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2" provenance.
- 25412741 title "Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome." provenance.
- 24115387 title "Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India." provenance.
- 27066836 title "A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation." provenance.
- 21756023 title "MYO1E mutations and childhood familial focal segmental glomerulosclerosis." provenance.
- 25818867 title "Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation." provenance.
- 1307245 title "Mutations in the candidate gene for Norrie disease." provenance.
- 14976160 title "A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception." provenance.
- 26571461 title "Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects" provenance.
- 26299364 title "Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome" provenance.
- 25394726 title "Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome" provenance.
- 25557780 title "CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein." provenance.
- 8751852 title "Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient" provenance.
- 25683117 title "Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB" provenance.
- 26279204 title "A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome." provenance.
- 24075184 title "Cole Disease Results from Mutations in ENPP1." provenance.
- 9662402 title "Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine" provenance.
- 9500541 title "A mutation in PDS causes non-syndromic recessive deafness" provenance.
- 26387595 title "Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6." provenance.
- 26387595 title "Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6." provenance.
- 26220973 title "A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform." provenance.
- 24589341 title "Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment" provenance.
- 25855803 title "Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis." provenance.
- dataset_extraction title "Constructed from Bio2rdf triples and events annotated using indicated method" provenance.
- 2773936 title "Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein" provenance.
- 24088043 title "PLS3 mutations in X-linked osteoporosis with fractures" provenance.
- 10622252 title "Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension" provenance.
- 25533962 title "Large-scale discovery of novel genetic causes of developmental disorders." provenance.
- 25533962 title "Large-scale discovery of novel genetic causes of developmental disorders." provenance.
- 25533962 title "Large-scale discovery of novel genetic causes of developmental disorders." provenance.
- 25533962 title "Large-scale discovery of novel genetic causes of developmental disorders." provenance.
- 25533962 title "Large-scale discovery of novel genetic causes of developmental disorders." provenance.
- 8825918 title "Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas." provenance.
- 27008887 title "The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease" provenance.
- 26358778 title "CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay" provenance.
- 11208676 title "Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia" provenance.
- 10742094 title "Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2" provenance.
- 11359211 title "De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy" provenance.
- 23115331 title "Gain-of-function Nav1.8 mutations in painful neuropathy." provenance.
- 7550319 title "Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome" provenance.
- 11062460 title "Mutations in SDHC cause autosomal dominant paraganglioma, type 3." provenance.
- 24456159 title "Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome." provenance.
- 25205112 title "Mutation of SLC9A1, encoding the major Na?/H? exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome." provenance.
- 26047794 title "Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia" provenance.
- dataset_extraction title "Extracted from public dataset" provenance.
- 25047197 title "Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome." provenance.
- 8446170 title "Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis" provenance.
- 24619930 title "A dominant STIM1 mutation causes Stormorken syndrome." provenance.
- 19420366 title "STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity" provenance.
- 11528398 title "The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy" provenance.
- 25730767 title "Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin." provenance.
- 24462369 title "A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome." provenance.
- 10802647 title "Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2." provenance.
- 25983243 title "A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia" provenance.
- 25907736 title "Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism." provenance.
- 26456284 title "A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia" provenance.
- 24419317 title "PRPF4 mutations cause autosomal dominant retinitis pigmentosa." provenance.
- 25986071 title "Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder." provenance.
- 20850105 title "A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness." provenance.
- 26805784 title "Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2." provenance.
- 26924529 title "Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures" provenance.
- 26924529 title "Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures" provenance.
- 25574826 title "CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease." provenance.
- 26159176 title "A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly." provenance.
- 25816005 title "HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice." provenance.
- 26151409 title "Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III." provenance.
- 26878725 title "Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome" provenance.
- 26878725 title "Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome" provenance.
- 26477546 title "Joubert Syndrome in French Canadians and Identification of Mutations in CEP104." provenance.
- 26333996 title "Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis." provenance.
- 26096313 title "KIAA0586 is Mutated in Joubert Syndrome." provenance.
- 26166481 title "Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome." provenance.
- 26528954 title "DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease." provenance.
- 25683121 title "Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta." provenance.
- 25077649 title "Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing." provenance.
- 24065355 title "A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort." provenance.
- 24128419 title "Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype." provenance.
- 2848800 title "The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase." provenance.
- 16186812 title "Mutations in SEPT9 cause hereditary neuralgic amyotrophy" provenance.
- 27058446 title "Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy" provenance.
- 27058447 title "De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions." provenance.