Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 12525539 title "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome" provenance.
- 18304496 title "Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria" provenance.
- 24360809 title "Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development." provenance.
- 23136403 title "Mutations in the area composita protein ?T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy" provenance.
- 8001137 title "Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9" provenance.
- 17827395 title "Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura." provenance.
- 16505158 title "X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene" provenance.
- 9489699 title "A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome" provenance.
- 15629837 title "A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy." provenance.
- 22939636 title "RTTN mutations link primary cilia function to organization of the human cerebral cortex" provenance.
- 11017088 title "Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation" provenance.
- 19442771 title "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III" provenance.
- 10431241 title "Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia" provenance.
- 10431241 title "Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia" provenance.
- 8001158 title "A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease" provenance.
- 22305528 title "Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly" provenance.
- 16407130 title "A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis" provenance.
- 22209248 title "Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6." provenance.
- 23222957 title "Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy." provenance.
- 7809065 title "Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect" provenance.
- 9012405 title "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy." provenance.
- 18179891 title "Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35." provenance.
- 10655545 title "Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies" provenance.
- 19068277 title "Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia." provenance.
- 20375004 title "Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome." provenance.
- 21683322 title "Mutations in the TGF? binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias." provenance.
- 21683322 title "Mutations in the TGF? binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias." provenance.
- 12489043 title "A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]" provenance.
- 23643382 title "Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism." provenance.
- 23643382 title "Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism." provenance.
- 23643382 title "Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism." provenance.
- 23643382 title "Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism." provenance.
- 23643382 title "Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism." provenance.
- 19589401 title "Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene." provenance.
- 16061565 title "Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain." provenance.
- 18179901 title "X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1" provenance.
- 11865300 title "Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer." provenance.
- 12612583 title "Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans." provenance.
- 12612583 title "Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans." provenance.
- 12612583 title "Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans." provenance.
- 12612583 title "Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans." provenance.
- 21070897 title "Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa" provenance.
- 18268355 title "Mutations in FN1 cause glomerulopathy with fibronectin deposits." provenance.
- 12149404 title "Identification of novel mutations in FOXL2 associated with premature ovarian failure" provenance.
- 11586359 title "A forkhead-domain gene is mutated in a severe speech and language disorder" provenance.
- 19732862 title "FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome." provenance.
- 11062458 title "Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit." provenance.
- 15571623 title "Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders" provenance.
- 12690580 title "Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V." provenance.
- 12690580 title "Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V." provenance.
- 12200364 title "X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction" provenance.
- 18055909 title "GATA4 sequence variants in patients with congenital heart disease." provenance.
- 20581743 title "Identification of GATA6 sequence variants in patients with congenital heart defects." provenance.
- 20581743 title "Identification of GATA6 sequence variants in patients with congenital heart defects." provenance.
- 22158542 title "GATA6 haploinsufficiency causes pancreatic agenesis in humans." provenance.
- 11743579 title "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21" provenance.
- 16532400 title "GDF5 is a second locus for multiple-synostosis syndrome." provenance.
- 9620768 title "Mutations in GDI1 are responsible for X-linked non-specific mental retardation." provenance.
- 17110937 title "Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity" provenance.
- 21326233 title "Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human." provenance.
- 10205266 title "Connexin46 mutations in autosomal dominant congenital cataract." provenance.
- 8651297 title "Mutations and phenotype in isolated glycerol kinase deficiency" provenance.
- 18204449 title "Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease" provenance.
- 18204449 title "Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease" provenance.
- 9571255 title "Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene" provenance.
- 12727968 title "Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene." provenance.
- 22325361 title "Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness" provenance.
- 9618177 title "Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy." provenance.
- 20357282 title "Glycogenin-1 deficiency and inactivated priming of glycogen synthesis" provenance.
- 12858176 title "Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency." provenance.
- 15806399 title "Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene" provenance.
- 10973318 title "A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains" provenance.
- 9620767 title "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse" provenance.
- 17160907 title "Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration." provenance.
- 12649808 title "Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E." provenance.
- 12649808 title "Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E." provenance.
- 10942115 title "Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III" provenance.
- 18500342 title "Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy" provenance.
- 18805827 title "Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC)" provenance.
- 9445480 title "Alopecia universalis associated with a mutation in the human hairless gene" provenance.
- 12089525 title "Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract." provenance.
- 20142617 title "Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach." provenance.
- 19387015 title "Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease." provenance.
- 15961413 title "Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease" provenance.
- 18806796 title "Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle" provenance.
- 12632327 title "Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips." provenance.
- 21350122 title "Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity." provenance.
- 21350122 title "Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity." provenance.
- 7883965 title "Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency" provenance.
- 22187985 title "INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy." provenance.
- 19668216 title "Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies." provenance.
- 15161766 title "A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene" provenance.
- 22581230 title "Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1" provenance.
- 22986007 title "Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia." provenance.
- 16501573 title "Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes" provenance.
- 21763485 title "Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis." provenance.
- 15922306 title "A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation." provenance.
- 10025409 title "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness" provenance.
- 15586325 title "Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation." provenance.
- 22284827 title "Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy." provenance.