Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 20190753 title "Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization." provenance.
- 15051220 title "VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells." provenance.
- 8004674 title "Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein" provenance.
- 18452888 title "Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome" provenance.
- 19110213 title "Mutations of the SYCP3 gene in women with recurrent pregnancy loss." provenance.
- 19079066 title "TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction." provenance.
- 19079066 title "TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction." provenance.
- 12389028 title "Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome." provenance.
- 12389028 title "Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome." provenance.
- 19068278 title "TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome." provenance.
- 21725307 title "A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition." provenance.
- 20018682 title "Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation." provenance.
- 17632511 title "Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL." provenance.
- 23354436 title "Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis." provenance.
- 9624053 title "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa." provenance.
- 16885549 title "Activating mutations in the ABCC8 gene in neonatal diabetes mellitus." provenance.
- 22782511 title "Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5." provenance.
- 23217327 title "Cowchock syndrome is associated with a mutation in apoptosis-inducing factor" provenance.
- 12970144 title "Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy." provenance.
- 21194679 title "Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I." provenance.
- 15174025 title "Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation" provenance.
- 8630485 title "XNP mutation in a large family with Juberg-Marsidi syndrome" provenance.
- 17160889 title "Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome" provenance.
- 16380913 title "Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene" provenance.
- 17676042 title "Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy" provenance.
- 21035102 title "Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII" provenance.
- 20619386 title "Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype." provenance.
- 7550350 title "A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy" provenance.
- 15128933 title "Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase" provenance.
- 22121204 title "Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation" provenance.
- 11788826 title "Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry" provenance.
- 23623389 title "Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia" provenance.
- 14732903 title "Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein." provenance.
- 16951682 title "Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract." provenance.
- 12815595 title "The molecular basis of glutamate formiminotransferase deficiency" provenance.
- 21665003 title "Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia." provenance.
- 19129173 title "Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes" provenance.
- 21310273 title "Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect." provenance.
- 20949620 title "D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK)." provenance.
- 10330343 title "Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme" provenance.
- 17967977 title "Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias" provenance.
- 17989220 title "Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans." provenance.
- 21419380 title "Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism" provenance.
- 21419380 title "Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism" provenance.
- 21848462 title "Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis." provenance.
- 18434651 title "Mutations in the iodotyrosine deiodinase gene and hypothyroidism." provenance.
- 16909397 title "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans" provenance.
- 15774581 title "Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function" provenance.
- 8595410 title "Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families" provenance.
- 15367484 title "Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities" provenance.
- 15064763 title "Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A" provenance.
- 11053684 title "Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy." provenance.
- 19692703 title "A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity." provenance.
- 12566280 title "Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease." provenance.
- 11971878 title "Mutations in TITF-1 are associated with benign hereditary chorea" provenance.
- 17507419 title "Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10" provenance.
- 11232563 title "An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome." provenance.
- 22137173 title "Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina." provenance.
- 18654668 title "Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice" provenance.
- 18654668 title "Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice" provenance.
- 18654668 title "Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice" provenance.
- 17701900 title "Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)" provenance.
- 19664745 title "Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure." provenance.
- 22265016 title "RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome" provenance.
- 10319851 title "A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation" provenance.
- 16326807 title "Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures." provenance.
- 10657297 title "Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma" provenance.
- 7883978 title "Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein." provenance.
- 16249884 title "Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation" provenance.
- 15459009 title "Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload" provenance.
- 12185364 title "Mutant deoxynucleotide carrier is associated with congenital microcephaly." provenance.
- 16550171 title "Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome" provenance.
- 17273967 title "Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase." provenance.
- 15806103 title "Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family." provenance.
- 1357662 title "Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II" provenance.
- 18179898 title "Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy" provenance.
- 21857683 title "Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia" provenance.
- 2331520 title "Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (G�nther's disease)." provenance.
- 15372378 title "A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis." provenance.
- 15372378 title "A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis." provenance.
- 15052268 title "Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome" provenance.
- 21695231 title "Exome sequencing identifies ZNF644 mutations in high myopia" provenance.
- 20598281 title "Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect" provenance.
- 16909383 title "A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene." provenance.
- 2308962 title "Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome." provenance.
- 2308962 title "Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome." provenance.
- 12424189 title "The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts" provenance.
- 11815350 title "CST3 genotype associated with exudative age related macular degeneration" provenance.
- 20800271 title "Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis" provenance.
- 15888793 title "ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy." provenance.
- 15042511 title "Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer" provenance.
- 16080123 title "A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis." provenance.
- 17301963 title "Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction." provenance.
- 19215732 title "Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly." provenance.
- 16199551 title "Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate" provenance.
- 16033914 title "The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation" provenance.
- 6198631 title "Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein." provenance.
- 3007108 title "One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity." provenance.
- 11286616 title "Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix." provenance.
- 8787672 title "Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease" provenance.