Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 14981520 title "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome" provenance.
- 14981520 title "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome" provenance.
- 14610718 title "MDR1 Ala893 polymorphism is associated with inflammatory bowel disease." provenance.
- 12217952 title "PRODH mutations and hyperprolinemia in a subset of schizophrenic patients" provenance.
- 16174643 title "Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk." provenance.
- 10545951 title "Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus" provenance.
- 14740321 title "Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II" provenance.
- 14740321 title "Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II" provenance.
- 15956286 title "The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure." provenance.
- 14718298 title "Ophthalmic Molecular Genetics" provenance.
- 14718298 title "Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes" provenance.
- 15115830 title "Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes" provenance.
- 12571597 title "Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death" provenance.
- 17404618 title "Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans" provenance.
- 18230725 title "Mutations in NALP12 cause hereditary periodic fever syndromes" provenance.
- 18507830 title "Could a defective epithelial sodium channel lead to bronchiectasis." provenance.
- 15800844 title "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism." provenance.
- 11586351 title "Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura." provenance.
- 12750403 title "Pacemaker channel dysfunction in a patient with sinus node disease" provenance.
- 22155368 title "CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome" provenance.
- 12474143 title "Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy" provenance.
- 18513682 title "NDUFA2 complex I mutation leads to Leigh disease" provenance.
- 23404334 title "Congenital myasthenic syndromes due to mutations in ALG2 and ALG14." provenance.
- 23404334 title "Congenital myasthenic syndromes due to mutations in ALG2 and ALG14." provenance.
- 11017086 title "Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene" provenance.
- 16767104 title "A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia" provenance.
- 19500772 title "Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations" provenance.
- 10508524 title "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8" provenance.
- 19896110 title "Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia." provenance.
- 19409520 title "Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder." provenance.
- 8696350 title "Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome." provenance.
- 10521291 title "The gamma-crystallins and human cataracts: a puzzle made clearer" provenance.
- 17167404 title "A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation." provenance.
- 11868161 title "Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1" provenance.
- 14681825 title "Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)." provenance.
- 15576474 title "Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter." provenance.
- 18179888 title "An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1" provenance.
- 15162322 title "Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation." provenance.
- 18252223 title "Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation." provenance.
- 18006477 title "Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy." provenance.
- 18678517 title "A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy" provenance.
- 14645853 title "Mutation of MEF2A in an inherited disorder with features of coronary artery disease" provenance.
- 17847003 title "A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation" provenance.
- 12459588 title "Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation." provenance.
- 15557513 title "A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation." provenance.
- 18678320 title "Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9." provenance.
- 19196676 title "Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation" provenance.
- 16571880 title "Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2" provenance.
- 11810107 title "Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features" provenance.
- 15028761 title "A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline" provenance.
- 14622600 title "Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)." provenance.
- 11901181 title "Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId." provenance.
- 15929027 title "A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy." provenance.
- 14517542 title "Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome" provenance.
- 7659163 title "Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)" provenance.
- 15968592 title "A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma" provenance.
- 12610310 title "Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban." provenance.
- 18571143 title "Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy." provenance.
- 17187068 title "HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)" provenance.
- 18308289 title "Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis" provenance.
- 17159980 title "Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia." provenance.
- 24120361 title "An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis." provenance.
- 20950788 title "De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment" provenance.
- 6310248 title "Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: studies on the natural history of the defect and effect of androgens on gender role." provenance.
- 23615299 title "Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth." provenance.
- 16916845 title "CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn." provenance.
- 18852889 title "Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant." provenance.
- 17277775 title "Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta" provenance.
- 23910461 title "Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections." provenance.
- 23418007 title "Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)." provenance.
- 8988171 title "UBE3A/E6-AP mutations cause Angelman syndrome" provenance.
- 20797687 title "Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism." provenance.
- 20206334 title "Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)" provenance.
- 23810378 title "PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy." provenance.
- 12872255 title "Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij" provenance.
- 22052668 title "Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta." provenance.
- 24239381 title "Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans" provenance.
- 18948947 title "Somatic mutations affect key pathways in lung adenocarcinoma" provenance.
- 23643384 title "Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity." provenance.
- 21664999 title "Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance" provenance.
- 23200863 title "Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis" provenance.
- 22958904 title "VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families" provenance.
- 18499083 title "Transcription factor FIGLA is mutated in patients with premature ovarian failure" provenance.
- 17701904 title "Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway" provenance.
- 21835305 title "Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors" provenance.
- 11244503 title "The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25" provenance.
- 1409720 title "Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia" provenance.
- 1409720 title "Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia" provenance.
- 3174660 title "A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia" provenance.
- 24858907 title "Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta." provenance.
- 2023927 title "Anti-M�llerian hormone Bruxelles: a nonsense mutation associated with the persistent M�llerian duct syndrome." provenance.
- 23911318 title "AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder" provenance.
- 15557516 title "A novel candidate region for ALS on chromosome 14q11.2." provenance.
- 14556008 title "Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse." provenance.
- 22294732 title "The phenotype of human STK4 deficiency." provenance.
- 15141091 title "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes" provenance.
- 15141091 title "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes" provenance.
- 20613862 title "A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia" provenance.
- 10192387 title "An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)" provenance.
- 23993197 title "Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects" provenance.