Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 1303258 title "Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus." provenance.
- 7630403 title "Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP" provenance.
- 21131953 title "Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness" provenance.
- 22587682 title "A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance." provenance.
- 24207120 title "Gain-of-function mutations in SCN11A cause familial episodic pain." provenance.
- 24239382 title "Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures" provenance.
- 10935639 title "GATA3 haplo-insufficiency causes human HDR syndrome" provenance.
- 12923531 title "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)" provenance.
- 2745420 title "Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis." provenance.
- 23620220 title "Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus." provenance.
- 21835307 title "Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms." provenance.
- 22592156 title "A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis" provenance.
- 19122847 title "Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome" provenance.
- 8298642 title "Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia" provenance.
- 17186464 title "Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration." provenance.
- 22883145 title "TCTN3 mutations cause Mohr-Majewski syndrome" provenance.
- 22883145 title "TCTN3 mutations cause Mohr-Majewski syndrome" provenance.
- 22814392 title "An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity." provenance.
- 7668281 title "Mutation of the PAX6 gene in patients with autosomal dominant keratitis" provenance.
- 11220736 title "Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia." provenance.
- 11279515 title "Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease" provenance.
- 19203578 title "The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage" provenance.
- 23349226 title "Mutations in TMEM231 cause Meckel-Gruber syndrome." provenance.
- 8841193 title "Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease" provenance.
- 19097825 title "Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion." provenance.
- 10508514 title "Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2" provenance.
- 11687800 title "The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA" provenance.
- 20556797 title "Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type." provenance.
- 19609311 title "Keratin K6c mutations cause focal palmoplantar keratoderma" provenance.
- 10651742 title "The prothrombin Denver patient has two different prothrombin point mutations resulting in Glu-300-->Lys and Glu-309-->Lys substitutions." provenance.
- 17273966 title "First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure" provenance.
- 22464254 title "Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts." provenance.
- 11175783 title "The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome" provenance.
- 9042919 title "Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis." provenance.
- 21285510 title "Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay." provenance.
- 7553855 title "Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium" provenance.
- 21439540 title "A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis." provenance.
- 23230001 title "Polymerase ?1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")" provenance.
- 8673107 title "A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome" provenance.
- 21378380 title "C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome" provenance.
- 23125284 title "A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia." provenance.
- 22610851 title "Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1." provenance.
- 16252239 title "Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator." provenance.
- 20451171 title "Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia." provenance.
- 23236289 title "Recessive mutations in SPTBN2 implicate ?-III spectrin in both cognitive and motor development" provenance.
- 12545426 title "Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy." provenance.
- 16384845 title "Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature." provenance.
- 19057675 title "Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord" provenance.
- 7512862 title "Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)." provenance.
- 20451170 title "A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss" provenance.
- 23599390 title "A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy." provenance.
- 9649554 title "Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia" provenance.
- 21617257 title "Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome." provenance.
- 10053006 title "A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene." provenance.
- 9620771 title "Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans" provenance.
- 23684010 title "Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease." provenance.
- 23733340 title "A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT." provenance.
- 19074801 title "A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa." provenance.
- 15781871 title "Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6" provenance.
- 22184408 title "A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia." provenance.
- 19580635 title "A novel mutation in the biliverdin reductase-A gene combined with liver cirrhosis results in hyperbiliverdinaemia (green jaundice)." provenance.
- 2052556 title "Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease" provenance.
- 22522442 title "A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation." provenance.
- 12577056 title "Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency" provenance.
- 16025100 title "Mutations in NOTCH1 cause aortic valve disease" provenance.
- 9497258 title "A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility" provenance.
- 9887343 title "Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma" provenance.
- 21722858 title "Disruption of PTPRO causes childhood-onset nephrotic syndrome" provenance.
- 9837814 title "Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D." provenance.
- 11941369 title "Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstr�m syndrome" provenance.
- 10802661 title "Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome" provenance.
- 23043144 title "Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions." provenance.
- 23335591 title "Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6." provenance.
- 10615125 title "Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis" provenance.
- 10615125 title "Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis" provenance.
- 23092955 title "Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome." provenance.
- 23240096 title "Mutation in MPDZ causes severe congenital hydrocephalus." provenance.
- 7550339 title "A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium" provenance.
- 11443547 title "Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia." provenance.
- 22870295 title "An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene." provenance.
- 23122586 title "Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss." provenance.
- 11047757 title "A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)" provenance.
- 22521418 title "PSORS2 is due to mutations in CARD14." provenance.
- 16772329 title "Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation" provenance.
- 10655055 title "ARSACS, a spastic ataxia common in northeastern Qu�bec, is caused by mutations in a new gene encoding an 11.5-kb ORF" provenance.
- 10831399 title "N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom" provenance.
- 19481195 title "The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1." provenance.
- 23364476 title "Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism." provenance.
- 23623387 title "Yunis-Var�n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase." provenance.
- 9326939 title "Identification of PAHX, a Refsum disease gene" provenance.
- 9949200 title "An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21." provenance.
- 9843216 title "Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency" provenance.
- 15054402 title "Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients" provenance.
- 15054402 title "Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients" provenance.
- 3597773 title "Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis." provenance.
- 18458227 title "Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations." provenance.
- 23252400 title "West syndrome caused by ST3Gal-III deficiency." provenance.
- 23564749 title "A new seipin-associated neurodegenerative syndrome." provenance.
- 19878916 title "Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs." provenance.
- 16951681 title "Lamin B1 duplications cause autosomal dominant leukodystrophy" provenance.