Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 9462751 title "TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa." provenance.
- 21791420 title "Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome" provenance.
- 17646580 title "Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells." provenance.
- 11157804 title "A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease." provenance.
- 19289823 title "Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10." provenance.
- 7846063 title "The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy." provenance.
- 23830518 title "Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability." provenance.
- 12872123 title "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination" provenance.
- 24290375 title "SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid" provenance.
- 11302742 title "Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II" provenance.
- 16672701 title "An antibody-deficiency syndrome due to mutations in the CD19 gene" provenance.
- 23001565 title "A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult." provenance.
- 22683086 title "Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation." provenance.
- 23910460 title "Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia." provenance.
- 20967465 title "A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome." provenance.
- 10369257 title "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein" provenance.
- 16525031 title "Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function." provenance.
- 8132745 title "Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene." provenance.
- 12707075 title "Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene" provenance.
- 9195225 title "DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient." provenance.
- 22818856 title "Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores" provenance.
- 17322883 title "Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum." provenance.
- 20671153 title "Planar cell polarity acts through septins to control collective cell movement and ciliogenesis." provenance.
- 18313027 title "Human RFT1 deficiency leads to a disorder of N-linked glycosylation" provenance.
- 19232556 title "Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia." provenance.
- 19232556 title "Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia." provenance.
- 2023926 title "Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients" provenance.
- 2023926 title "Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients" provenance.
- 7524919 title "Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens" provenance.
- 17522105 title "Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5." provenance.
- 11242114 title "Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I" provenance.
- 16358214 title "SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis" provenance.
- 17847006 title "Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia." provenance.
- 21907012 title "ST3GAL3 mutations impair the development of higher cognitive functions." provenance.
- 19804848 title "Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11" provenance.
- 9428520 title "Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase" provenance.
- 15106123 title "Mutations in the human TBX4 gene cause small patella syndrome." provenance.
- 18264100 title "Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)." provenance.
- 21106500 title "TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing." provenance.
- 18313022 title "Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene" provenance.
- 16415887 title "The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat." provenance.
- 22152682 title "Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway." provenance.
- 11738357 title "Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy" provenance.
- 19878917 title "Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans" provenance.
- 9924029 title "Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder" provenance.
- 9042911 title "Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families" provenance.
- 2849209 title "Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets" provenance.
- 15257456 title "CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds" provenance.
- 11242115 title "Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia." provenance.
- 18515319 title "Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation." provenance.
- 19918918 title "WNT5A mutations in patients with autosomal dominant Robinow syndrome" provenance.
- 21205863 title "Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita." provenance.
- 8298653 title "Characterization of molecular defects in xeroderma pigmentosum group C" provenance.
- 22634751 title "Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome" provenance.
- 9529347 title "Marshall syndrome associated with a splicing defect at the COL11A1 locus." provenance.
- 22544365 title "Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration" provenance.
- 19838196 title "Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy" provenance.
- 17572665 title "Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J" provenance.
- 2122458 title "Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis" provenance.
- 2140573 title "Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site" provenance.
- 10094550 title "Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)" provenance.
- 17704776 title "Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype." provenance.
- 8102379 title "Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1." provenance.
- 11231775 title "Mutations in the CRB1 gene cause Leber congenital amaurosis" provenance.
- 14561710 title "Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS." provenance.
- 16400613 title "A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency" provenance.
- 22492562 title "Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations." provenance.
- 8650545 title "PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein" provenance.
- 23176823 title "Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia." provenance.
- 8955159 title "Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease" provenance.
- 14532329 title "Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)" provenance.
- 10888887 title "Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis" provenance.
- 10580070 title "Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease" provenance.
- 23793029 title "ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3." provenance.
- 9245936 title "Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis." provenance.
- 21737058 title "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth" provenance.
- 20004763 title "A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly" provenance.
- 22231303 title "A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP" provenance.
- 23315542 title "Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome." provenance.
- 23315542 title "Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome." provenance.
- 12692554 title "Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease." provenance.
- 23343562 title "TBC1D24 truncating mutation resulting in severe neurodegeneration." provenance.
- 17033975 title "Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2" provenance.
- 24056535 title "Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene" provenance.
- 12485428 title "Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex." provenance.
- 21464306 title "Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome" provenance.
- 14872406 title "Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family" provenance.
- 12668616 title "Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome." provenance.
- 24011989 title "Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus." provenance.
- 12110737 title "Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism" provenance.
- 20577004 title "Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Hu�t anomaly" provenance.
- 17186462 title "Tricellulin is a tight-junction protein necessary for hearing." provenance.
- 23731542 title "Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis." provenance.
- 12205563 title "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution" provenance.
- 8985184 title "Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis" provenance.
- 11982762 title "Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma." provenance.
- 15731758 title "Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease" provenance.
- 22840364 title "POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism." provenance.
- 9384606 title "Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis" provenance.
- 14564667 title "Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation." provenance.