Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 12764198 title "CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility" provenance.
- 12121354 title "Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)" provenance.
- 23636107 title "A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT." provenance.
- 3384440 title "An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus." provenance.
- 24027061 title "SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease" provenance.
- 16080122 title "Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification" provenance.
- 23993193 title "Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance" provenance.
- 20049731 title "Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC" provenance.
- 19646678 title "Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene." provenance.
- 9463323 title "Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit." provenance.
- 22581229 title "CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms." provenance.
- 22541560 title "Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia" provenance.
- 10958759 title "Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G." provenance.
- 8733128 title "Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome" provenance.
- 10369267 title "A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy" provenance.
- 11063735 title "Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma" provenance.
- 21498477 title "Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP." provenance.
- 22431104 title "Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia." provenance.
- 10888875 title "Genetic basis of total colourblindness among the Pingelapese islanders" provenance.
- 15137946 title "Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene" provenance.
- 16474405 title "Germline KRAS mutations cause Noonan syndrome" provenance.
- 23246003 title "Mutations in the ?-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities." provenance.
- 17883852 title "Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)." provenance.
- 11992264 title "Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone." provenance.
- 9590299 title "Mutations in the integrin alpha7 gene cause congenital myopathy" provenance.
- 23596073 title "Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation." provenance.
- 1382994 title "Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene" provenance.
- 19344877 title "Human male infertility caused by mutations in the CATSPER1 channel protein" provenance.
- 22901947 title "Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1." provenance.
- 10587575 title "A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration" provenance.
- 22415731 title "Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus." provenance.
- 11471164 title "SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature." provenance.
- 20833646 title "Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy." provenance.
- 23582646 title "A de novo mutation in the ?-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum" provenance.
- 16404586 title "A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis." provenance.
- 11125141 title "Identification of HE1 as the second gene of Niemann-Pick C disease" provenance.
- 9139825 title "Connexin 26 mutations in hereditary non-syndromic sensorineural deafness" provenance.
- 9139825 title "Connexin 26 mutations in hereditary non-syndromic sensorineural deafness" provenance.
- 10369869 title "A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families." provenance.
- 2539398 title "Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene" provenance.
- 8589713 title "Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome" provenance.
- 15994174 title "A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2" provenance.
- 25561519 title "BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies." provenance.
- 24581742 title "Loss of ?1?1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia." provenance.
- 26358773 title "Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea" provenance.
- 25272951 title "A new muscle glycogen storage disease associated with glycogenin-1 deficiency." provenance.
- 26222560 title "Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer." provenance.
- 26206890 title "Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability" provenance.
- 23775976 title "HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss." provenance.
- 9020844 title "Mutation of HOXA13 in hand-foot-genital syndrome" provenance.
- 22770981 title "HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice." provenance.
- 8614804 title "Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13" provenance.
- 16684018 title "SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias." provenance.
- 14520662 title "Myosin storage myopathy associated with a heterozygous missense mutation in MYH7." provenance.
- 18510646 title "Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval." provenance.
- 8162071 title "Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly" provenance.
- 22922033 title "Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome." provenance.
- 7550340 title "Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)" provenance.
- 19920351 title "A novel microRNA targeting HDAC5 regulates osteoblast differentiation in mice and contributes to primary osteoporosis in humans." provenance.
- 12393809 title "Okihiro syndrome is caused by SALL4 mutations" provenance.
- 8878478 title "Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia" provenance.
- 24291220 title "The genetic basis of DOORS syndrome: an exome-sequencing study." provenance.
- 23037936 title "Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations." provenance.
- 12554689 title "Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome" provenance.
- 15811011 title "Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I." provenance.
- 16751771 title "Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease." provenance.
- 22740598 title "Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease." provenance.
- 12124406 title "Osteoprotegerin deficiency and juvenile Paget's disease." provenance.
- 21782149 title "Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia" provenance.
- 15362570 title "Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)" provenance.
- 22859821 title "Mycobacterial disease and impaired IFN-? immunity in humans with inherited ISG15 deficiency" provenance.
- 23423984 title "Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia" provenance.
- 6179097 title "Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area?" provenance.
- 11369996 title "A nonsense mutation in MSX1 causes Witkop syndrome." provenance.
- 23391734 title "STAT2 deficiency and susceptibility to viral illness in humans" provenance.
- 23315541 title "Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia." provenance.
- 23065719 title "A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder." provenance.
- 8673101 title "A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)" provenance.
- 22678063 title "Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness" provenance.
- 21907147 title "Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation" provenance.
- 22801503 title "Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis" provenance.
- 22265014 title "Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome" provenance.
- 21129723 title "PSMB8 encoding the ?5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome." provenance.
- 19692347 title "ALX4 dysfunction disrupts craniofacial and epidermal development" provenance.
- 24140114 title "Germline mutations in NFKB2 implicate the noncanonical NF-?B pathway in the pathogenesis of common variable immunodeficiency" provenance.
- 22883147 title "RBPJ mutations identified in two families affected by Adams-Oliver syndrome" provenance.
- 19559397 title "Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy." provenance.
- 16751772 title "Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein" provenance.
- 23332918 title "Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus." provenance.
- 24387993 title "Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease." provenance.
- 22981119 title "A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment." provenance.
- 23122589 title "Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia" provenance.
- 1334370 title "Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization." provenance.
- 2794057 title "Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype." provenance.
- 11929858 title "Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)" provenance.
- 17503326 title "A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss" provenance.
- 23375655 title "Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta" provenance.
- 23160277 title "Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A" provenance.
- 23595882 title "Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)." provenance.
- 15090652 title "Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa." provenance.