Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 15761122 title "Complement factor H polymorphism in age-related macular degeneration" provenance.
- 21391237 title "TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy" provenance.
- 16385458 title "Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss" provenance.
- 16826524 title "Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear" provenance.
- 12632326 title "Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects" provenance.
- 20807224 title "New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle" provenance.
- 1975693 title "Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia." provenance.
- 19200522 title "A missense mutation in CASK causes FG syndrome in an Italian family." provenance.
- 2063868 title "delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote" provenance.
- 18760763 title "C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload" provenance.
- 23312594 title "ALDH1A3 mutations cause recessive anophthalmia and microphthalmia." provenance.
- 2825199 title "Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation" provenance.
- 10581036 title "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases" provenance.
- 10581036 title "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases" provenance.
- 10080182 title "Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene." provenance.
- 10926541 title "Role of adenine nucleotide translocator 1 in mtDNA maintenance" provenance.
- 8944027 title "Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis" provenance.
- 15024727 title "Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East." provenance.
- 14585940 title "Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma." provenance.
- 12565911 title "Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia." provenance.
- 22265015 title "Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome." provenance.
- 9620769 title "The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25" provenance.
- 23023331 title "Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." provenance.
- 23023331 title "Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." provenance.
- 21455487 title "Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia" provenance.
- 24268659 title "Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy" provenance.
- 20137773 title "Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets" provenance.
- 10587585 title "Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy" provenance.
- 23352259 title "Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability." provenance.
- 12742592 title "Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2." provenance.
- 22305526 title "RAD51 haploinsufficiency causes congenital mirror movements in humans." provenance.
- 2556453 title "A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease" provenance.
- 23176821 title "Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia." provenance.
- 23176821 title "Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia." provenance.
- 15668942 title "Mutations in ZASP define a novel form of muscular dystrophy in humans" provenance.
- 9700591 title "Molecular characterization of a unique patient with epimerase-deficiency galactosaemia" provenance.
- 22246503 title "CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium" provenance.
- 11687802 title "Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus" provenance.
- 16247010 title "Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita" provenance.
- 9399911 title "Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis" provenance.
- 20522431 title "Novel CENPJ mutation causes Seckel syndrome" provenance.
- 17377962 title "Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects." provenance.
- 9664084 title "Defective expression of p56lck in an infant with severe combined immunodeficiency." provenance.
- 12145746 title "Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus." provenance.
- 21115467 title "A mutation in the RNF170 gene causes autosomal dominant sensory ataxia." provenance.
- 22095910 title "VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans." provenance.
- 23522784 title "Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome" provenance.
- 20007542 title "Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene." provenance.
- 22328086 title "Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy." provenance.
- 11891690 title "ABCD syndrome is caused by a homozygous mutation in the EDNRB gene" provenance.
- 23023333 title "CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development." provenance.
- 11017075 title "Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10." provenance.
- 10888890 title "Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts." provenance.
- 20598275 title "Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4." provenance.
- 23297359 title "Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis." provenance.
- 11574907 title "Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4" provenance.
- 10391242 title "A stop-codon mutation in the BRI gene associated with familial British dementia" provenance.
- 24035193 title "Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction." provenance.
- 11719191 title "LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development" provenance.
- 9634529 title "The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1." provenance.
- 11868160 title "A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1" provenance.
- 11067870 title "The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis" provenance.
- 16826527 title "Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31" provenance.
- 9153281 title "Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria" provenance.
- 8698234 title "Interactions between wild-type and mutant prion proteins modulate neurodegeneration in transgenic mice." provenance.
- 22226084 title "ABCB6 mutations cause ocular coloboma" provenance.
- 23390136 title "Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders." provenance.
- 11818965 title "Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors." provenance.
- 12705872 title "Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris" provenance.
- 10839543 title "Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium" provenance.
- 15543146 title "Mutations in PTF1A cause pancreatic and cerebellar agenesis" provenance.
- dataset_extraction title "Webcrawled and annotated using indicated method" provenance.
- 17436253 title "Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus" provenance.
- 21206088 title "Mutation in the TCR? subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCR??+ T cells." provenance.
- 23647072 title "Exome sequencing reveals new causal mutations in children with epileptic encephalopathies" provenance.
- 9662406 title "CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis" provenance.
- 23932106 title "Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum" provenance.
- 21412954 title "Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex." provenance.
- 23664117 title "Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders." provenance.
- 23664117 title "Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders." provenance.
- 18371931 title "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia" provenance.
- 18371931 title "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia" provenance.
- 9398839 title "Positional cloning of the APECED gene" provenance.
- 12958596 title "Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination." provenance.
- 10788335 title "A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency." provenance.
- 10471507 title "Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia." provenance.
- 10769282 title "Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24." provenance.
- 23768512 title "Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan" provenance.
- 23768512 title "Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan" provenance.
- 23768512 title "Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan" provenance.
- 21474760 title "Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I" provenance.
- 23319571 title "B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C ?." provenance.
- 7517574 title "Homozygous human TAP peptide transporter mutation in HLA class I deficiency" provenance.
- 10888877 title "Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism" provenance.
- 7553856 title "Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure" provenance.
- 19878914 title "Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n." provenance.
- 18297069 title "Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations" provenance.
- 10362788 title "Activating c-kit gene mutations in human germ cell tumors" provenance.
- 20493457 title "Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay." provenance.
- 23972370 title "BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia" provenance.