Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 14740318 title "Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome." provenance.
- 12525712 title "Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C." provenance.
- 11799477 title "Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse" provenance.
- 21129722 title "Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination." provenance.
- 15121775 title "Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD" provenance.
- 20672378 title "Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2." provenance.
- 8589691 title "The mutational spectrum in Waardenburg syndrome." provenance.
- 22152675 title "TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone" provenance.
- 11254442 title "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts" provenance.
- 12897212 title "Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)" provenance.
- 10053004 title "Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B." provenance.
- 10612394 title "The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder" provenance.
- 10742103 title "Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification" provenance.
- 21378987 title "A rare variant in MYH6 is associated with high risk of sick sinus syndrome" provenance.
- 21055718 title "Mutations in myosin light chain kinase cause familial aortic dissections" provenance.
- 15060111 title "Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6)." provenance.
- 12687499 title "Mutations of MYO6 are associated with recessive deafness, DFNB37" provenance.
- 9171833 title "The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene" provenance.
- 10958653 title "Myotilin is mutated in limb girdle muscular dystrophy 1A" provenance.
- 8252044 title "A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy" provenance.
- 10330338 title "Human mitochondrial complex I in health and disease" provenance.
- 10080174 title "Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy." provenance.
- 16855267 title "Mutant neurogenin-3 in congenital malabsorptive diarrhea." provenance.
- 14508710 title "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)." provenance.
- 11687797 title "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome" provenance.
- 11687797 title "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome" provenance.
- 9354794 title "X-linked situs abnormalities result from mutations in ZIC3" provenance.
- 9354794 title "X-linked situs abnormalities result from mutations in ZIC3" provenance.
- 11545688 title "Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism" provenance.
- 12872122 title "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis" provenance.
- 15342707 title "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract" provenance.
- 18179886 title "Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis" provenance.
- 12721955 title "Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations." provenance.
- 12721955 title "Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations." provenance.
- 12721955 title "Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations." provenance.
- 8640214 title "PAX6 missense mutation in isolated foveal hypoplasia" provenance.
- 8352282 title "Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism" provenance.
- 9207799 title "Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene" provenance.
- 12730697 title "Mutations in PCSK9 cause autosomal dominant hypercholesterolemia" provenance.
- 12415272 title "Mutations in PHF6 are associated with B�rjeson-Forssman-Lehmann syndrome." provenance.
- 8896567 title "Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans" provenance.
- 20802478 title "Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome." provenance.
- 17701898 title "Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway." provenance.
- 15489853 title "Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy" provenance.
- 17086182 title "Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible" provenance.
- 12881513 title "Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis." provenance.
- 12825077 title "Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy." provenance.
- 21855841 title "Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy." provenance.
- 12369018 title "Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome" provenance.
- 15792865 title "An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene." provenance.
- 22958903 title "Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome." provenance.
- 16938425 title "Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans." provenance.
- 22464250 title "Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis" provenance.
- 9462743 title "Mutations in PROP1 cause familial combined pituitary hormone deficiency" provenance.
- 21549338 title "A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa." provenance.
- 11468273 title "Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)." provenance.
- 22243967 title "PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome." provenance.
- 11971877 title "Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder" provenance.
- 20346435 title "Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction" provenance.
- 9529348 title "Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI" provenance.
- 10758162 title "Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation" provenance.
- 14639529 title "Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations" provenance.
- 14639529 title "Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations" provenance.
- 14662654 title "Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea." provenance.
- 15258582 title "Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy." provenance.
- 12659814 title "Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)" provenance.
- 22197488 title "Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus" provenance.
- 10102298 title "Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26" provenance.
- 17357069 title "Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux" provenance.
- 10508512 title "Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia." provenance.
- 22825317 title "Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia." provenance.
- 21255763 title "Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome." provenance.
- 16054936 title "Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine" provenance.
- 12766226 title "Myasthenic syndrome caused by mutation of the SCN4A sodium channel." provenance.
- 17145499 title "SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes" provenance.
- 19561605 title "Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II." provenance.
- 16199541 title "Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases" provenance.
- 16199541 title "Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases" provenance.
- 11381256 title "Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism." provenance.
- 19684605 title "Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair" provenance.
- 9109432 title "Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2)" provenance.
- 19412178 title "Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia" provenance.
- 8528239 title "Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene" provenance.
- 19631310 title "Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome." provenance.
- 17065149 title "Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency." provenance.
- 19061983 title "A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)" provenance.
- 12324554 title "Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter." provenance.
- 15286787 title "Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder" provenance.
- 10684912 title "Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency" provenance.
- 21703590 title "Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting" provenance.
- 10835640 title "Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis" provenance.
- 16429157 title "Spectrin mutations cause spinocerebellar ataxia type 5." provenance.
- 17761684 title "Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity." provenance.
- 17761684 title "Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity." provenance.
- 11238270 title "Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome." provenance.
- 17668378 title "Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy" provenance.
- 21212097 title "Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13" provenance.
- 10802654 title "Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus." provenance.
- 22883144 title "The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement." provenance.
- 10973241 title "Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease." provenance.