Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 18677313 title "ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation" provenance.
- 19043417 title "Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2." provenance.
- 8346443 title "Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families" provenance.
- 11095479 title "Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]." provenance.
- 2111584 title "Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type." provenance.
- 22842232 title "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood" provenance.
- 12358323 title "BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives." provenance.
- 15475955 title "Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B." provenance.
- 15475955 title "Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B." provenance.
- 19165920 title "Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum." provenance.
- 2308162 title "Molecular analysis of human acatalasemia. Identification of a splicing mutation." provenance.
- 21131974 title "The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation" provenance.
- 21358632 title "Mutations in the pre-replication complex cause Meier-Gorlin syndrome" provenance.
- 21358632 title "Mutations in the pre-replication complex cause Meier-Gorlin syndrome" provenance.
- 21358632 title "Mutations in the pre-replication complex cause Meier-Gorlin syndrome" provenance.
- 21358632 title "Mutations in the pre-replication complex cause Meier-Gorlin syndrome" provenance.
- 21552266 title "Mutations in CEP57 cause mosaic variegated aneuploidy syndrome." provenance.
- 11457876 title "A family with complement factor D deficiency" provenance.
- 8530058 title "Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency" provenance.
- 16807408 title "ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)" provenance.
- 20004762 title "Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome." provenance.
- 11379879 title "Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa." provenance.
- 11565064 title "A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity" provenance.
- 21258343 title "Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome" provenance.
- 8486760 title "Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing" provenance.
- 10662807 title "Haim-Munk syndrome and Papillon-Lef�vre syndrome are allelic mutations in cathepsin C" provenance.
- 2243141 title "Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease" provenance.
- 11502818 title "Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency" provenance.
- 19136952 title "DCTN1 mutations in Perry syndrome." provenance.
- 17460227 title "A lethal defect of mitochondrial and peroxisomal fission." provenance.
- 23603762 title "Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly." provenance.
- 23603762 title "Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly." provenance.
- 23603762 title "Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly." provenance.
- 9915973 title "A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction" provenance.
- 10655068 title "Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy" provenance.
- 10655068 title "Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy" provenance.
- 18157129 title "Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2." provenance.
- 18157129 title "Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2." provenance.
- 16909395 title "Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase" provenance.
- 21874003 title "Germline mutations in BAP1 predispose to melanocytic tumors" provenance.
- 7730648 title "Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families" provenance.
- 8098723 title "Genetic basis of human complement C8 beta deficiency" provenance.
- 10762541 title "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia." provenance.
- 7874174 title "Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation" provenance.
- 21983783 title "A primary microcephaly protein complex forms a ring around parental centrioles." provenance.
- 20961246 title "Mutant CHUK and severe fetal encasement malformation" provenance.
- 15077201 title "Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway." provenance.
- 10508521 title "Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)" provenance.
- 9537410 title "De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis" provenance.
- 9467006 title "Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA" provenance.
- 11577372 title "Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans." provenance.
- 9927684 title "Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene" provenance.
- 8265607 title "Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries." provenance.
- 9802883 title "Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease" provenance.
- 18252231 title "Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration" provenance.
- 15185169 title "Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation." provenance.
- 23354437 title "The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans." provenance.
- 10767341 title "Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum" provenance.
- 23354439 title "Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis." provenance.
- 15286153 title "Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction" provenance.
- 22772368 title "Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm." provenance.
- 19535802 title "Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency." provenance.
- 12204536 title "Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dub� syndrome" provenance.
- 1928092 title "Human beta-galactosidase gene mutations in morquio B disease" provenance.
- 17245405 title "KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation." provenance.
- 11590543 title "Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome." provenance.
- 22405087 title "Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2." provenance.
- 11889465 title "FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation" provenance.
- 9563954 title "Actin mutations in dilated cardiomyopathy, a heritable form of heart failure" provenance.
- 13680526 title "Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26)." provenance.
- 20208537 title "Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28." provenance.
- 1570328 title "Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency." provenance.
- 10581255 title "Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase" provenance.
- 15124103 title "The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)." provenance.
- 23222959 title "Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3." provenance.
- 20393562 title "APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex" provenance.
- 15215304 title "The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering" provenance.
- 1718978 title "Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B" provenance.
- 7720070 title "A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy" provenance.
- 11889467 title "Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy" provenance.
- 15114530 title "AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC" provenance.
- 12539047 title "Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2" provenance.
- 12542527 title "Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease." provenance.
- 10615129 title "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease" provenance.
- 9916796 title "Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness" provenance.
- 16549777 title "Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene." provenance.
- 12567324 title "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2." provenance.
- 15004558 title "Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR." provenance.
- 20869035 title "BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing." provenance.
- 17224476 title "Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death" provenance.
- 19853239 title "Identification of CANT1 mutations in Desbuquois dysplasia." provenance.
- 22983954 title "Kinetochore KMN network gene CASC5 mutated in primary microcephaly." provenance.
- 19935664 title "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans" provenance.
- 17847009 title "Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome" provenance.
- 12434312 title "Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1" provenance.
- 15537665 title "Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans" provenance.
- 15537665 title "Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans" provenance.
- 21368133 title "Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)." provenance.
- 9312129 title "Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism" provenance.
- 17160903 title "Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2" provenance.