Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 8651291 title "Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"" provenance.
- 10071056 title "The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype." provenance.
- 21349352 title "Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome" provenance.
- 2572590 title "Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport." provenance.
- 15060842 title "Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates" provenance.
- 11159941 title "Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts." provenance.
- 23274426 title "DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN." provenance.
- 19200529 title "A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis." provenance.
- 20602914 title "Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82." provenance.
- 8266101 title "Connexin mutations in X-linked Charcot-Marie-Tooth disease" provenance.
- 7731706 title "Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma." provenance.
- 17564971 title "Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa" provenance.
- 23519333 title "Mutations in ABCB6 cause dyschromatosis universalis hereditaria" provenance.
- 7581448 title "Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12" provenance.
- 21998596 title "CtIP Mutations Cause Seckel and Jawad Syndromes" provenance.
- 21998596 title "CtIP Mutations Cause Seckel and Jawad Syndromes" provenance.
- 21820096 title "Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome" provenance.
- 12402266 title "A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures" provenance.
- 24768550 title "Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome" provenance.
- 7792600 title "A single ataxia telangiectasia gene with a product similar to PI-3 kinase" provenance.
- 24468074 title "A novel recurrent mutation in ATP1A3 causes CAPOS syndrome." provenance.
- 25597510 title "CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder." provenance.
- 10369876 title "Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin." provenance.
- 16960811 title "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)" provenance.
- 12118250 title "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Hu�t anomaly)" provenance.
- 12118250 title "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger?Hu�t anomaly)" provenance.
- 16085695 title "Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene." provenance.
- 21353196 title "Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta" provenance.
- 23802516 title "Mutations affecting G-protein subunit ?11 in hypercalcemia and hypocalcemia." provenance.
- 23802516 title "Mutations affecting G-protein subunit ?11 in hypercalcemia and hypocalcemia." provenance.
- 22226083 title "Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1." provenance.
- 10781099 title "A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred" provenance.
- 23273567 title "Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia." provenance.
- 22499339 title "An SNX10 mutation causes malignant osteopetrosis of infancy." provenance.
- 11138005 title "A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy" provenance.
- 1749427 title "A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa" provenance.
- 1749427 title "A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa" provenance.
- 7870171 title "Defective myosin VIIA gene responsible for Usher syndrome type 1B" provenance.
- 22541558 title "Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome" provenance.
- 10090888 title "COL9A3: A third locus for multiple epiphyseal dysplasia." provenance.
- 1752952 title "A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism." provenance.
- 23687351 title "A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies." provenance.
- 22563501 title "A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism" provenance.
- 9771712 title "Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired" provenance.
- 11545739 title "A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)" provenance.
- 11528392 title "A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure." provenance.
- 11528392 title "A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure." provenance.
- 27236923 title "BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia." provenance.
- 16651346 title "Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene" provenance.
- 22607940 title "Identification of a mutation in LARS as a novel cause of infantile hepatopathy." provenance.
- 17952091 title "Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human" provenance.
- 20705278 title "Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa." provenance.
- 9731527 title "A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B" provenance.
- 25609768 title "Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia." provenance.
- 25644381 title "X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes" provenance.
- 25644381 title "X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes" provenance.
- 25644381 title "X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes" provenance.
- 11207362 title "Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man" provenance.
- 26581901 title "Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia" provenance.
- 22035880 title "Genetic CD21 deficiency is associated with hypogammaglobulinemia." provenance.
- 1594605 title "Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency" provenance.
- 24882706 title "Mutations of CEP83 cause infantile nephronophthisis and intellectual disability." provenance.
- 25098561 title "Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder." provenance.
- 26235985 title "Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling" provenance.
- 9771715 title "Nonsyndromic hearing impairment is associated with a mutation in DFNA5" provenance.
- 23832105 title "Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation." provenance.
- 19285295 title "Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation." provenance.
- 8163685 title "A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds" provenance.
- 9792859 title "Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly." provenance.
- 23974871 title "Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting." provenance.
- 7573043 title "Genetic mapping of the dentinogenesis imperfecta type II locus." provenance.
- 16505173 title "Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy" provenance.
- 25817016 title "DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome." provenance.
- 26924530 title "DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome." provenance.
- 25799108 title "Mutations in HPCA cause autosomal-recessive primary isolated dystonia." provenance.
- 25125611 title "ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism." provenance.
- 11929856 title "Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)." provenance.
- 25772936 title "Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia." provenance.
- 24691054 title "Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR." provenance.
- 10633135 title "A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)." provenance.
- 10192386 title "A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection" provenance.
- 11567216 title "Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4." provenance.
- 20451172 title "A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa" provenance.
- 24119685 title "ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19" provenance.
- 25581430 title "Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy" provenance.
- 9359046 title "BOR and BO syndromes are allelic defects of EYA1" provenance.
- 24989505 title "FGF5 is a crucial regulator of hair length in humans" provenance.
- 21700882 title "Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism" provenance.
- 23812909 title "FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly." provenance.
- 26942290 title "Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis." provenance.
- 8200987 title "Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency" provenance.
- dataset_extraction title "Software Generated." provenance.
- 9817924 title "Hereditary lymphedema: evidence for linkage and genetic heterogeneity." provenance.
- 9398858 title "Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome" provenance.
- 11739194 title "Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen." provenance.
- 24334290 title "Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5" provenance.
- 19375058 title "A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease" provenance.
- 11807148 title "A deletion involving the connexin 30 gene in nonsyndromic hearing impairment" provenance.
- 10615131 title "Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I" provenance.
- 24043777 title "Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene." provenance.