Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 20036350 title "Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation" provenance.
- 9054935 title "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies" provenance.
- 9054935 title "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies" provenance.
- 9054935 title "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies" provenance.
- 9054935 title "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies" provenance.
- 9054935 title "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies" provenance.
- 19124645 title "Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1" provenance.
- 7545057 title "Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia" provenance.
- 7545057 title "Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia" provenance.
- 11704759 title "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome" provenance.
- 7726168 title "Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8." provenance.
- 22926851 title "Familial cortical myoclonus with a mutation in NOL3." provenance.
- 19781681 title "PPIB mutations cause severe osteogenesis imperfecta." provenance.
- 19712804 title "Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy." provenance.
- 11159936 title "Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)" provenance.
- 22521417 title "Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C." provenance.
- 8896572 title "Mutations in the human Sonic Hedgehog gene cause holoprosencephaly" provenance.
- 24268661 title "Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis." provenance.
- 24387994 title "Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86." provenance.
- 11207361 title "Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia" provenance.
- 8485576 title "Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy" provenance.
- 8485576 title "Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy" provenance.
- 21576112 title "Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin" provenance.
- 20004766 title "Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia." provenance.
- 23891469 title "ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6" provenance.
- 17236128 title "CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1" provenance.
- 16252232 title "Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells." provenance.
- 19327736 title "TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy" provenance.
- 24055112 title "Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms." provenance.
- 23541344 title "Mutations in KCTD1 cause scalp-ear-nipple syndrome." provenance.
- 8297359 title "Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase." provenance.
- 18042646 title "Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism." provenance.
- 7493034 title "Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans." provenance.
- 20624953 title "Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila." provenance.
- 10359825 title "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic" provenance.
- 20972249 title "Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability." provenance.
- 23810381 title "TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities." provenance.
- 16380922 title "Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation." provenance.
- 24140113 title "Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans." provenance.
- 23359570 title "Missense mutations in ?-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome." provenance.
- 8670792 title "The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor" provenance.
- 15537906 title "Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency" provenance.
- 11687798 title "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure" provenance.
- 22703882 title "Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V." provenance.
- 16474404 title "Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome" provenance.
- 16474404 title "Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome" provenance.
- 7795583 title "Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome" provenance.
- 23851939 title "A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome." provenance.
- 12554688 title "Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15." provenance.
- 20702823 title "A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae." provenance.
- 20683927 title "Mutations in GDF5 presenting as semidominant brachydactyly A1." provenance.
- 8406497 title "Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome." provenance.
- 23109149 title "DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy." provenance.
- 16200213 title "Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment." provenance.
- 12355402 title "A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)" provenance.
- 16282978 title "The gene disrupted in Marinesco-Sj�gren syndrome encodes SIL1, an HSPA5 cochaperone" provenance.
- 2510172 title "Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta" provenance.
- 16682973 title "The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4" provenance.
- 16682973 title "The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4" provenance.
- 15756637 title "Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis." provenance.
- 9553082 title "Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency" provenance.
- 19631309 title "Identification of an agrin mutation that causes congenital myasthenia and affects synapse function." provenance.
- 18093912 title "Mutation of an A-kinase-anchoring protein causes long-QT syndrome" provenance.
- 20080937 title "A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip." provenance.
- 15148656 title "Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL." provenance.
- 10024875 title "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor" provenance.
- 14647276 title "Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex" provenance.
- 14508709 title "Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10." provenance.
- 18674751 title "Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome" provenance.
- 11685207 title "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia" provenance.
- 22912398 title "Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis." provenance.
- 14757859 title "Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12" provenance.
- 21763480 title "Faulty initiation of proteoglycan synthesis causes cardiac and joint defects" provenance.
- 21549337 title "Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome" provenance.
- 11381270 title "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4." provenance.
- 22177090 title "Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement" provenance.
- 12111638 title "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina" provenance.
- 10412980 title "Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II" provenance.
- 16041373 title "Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia" provenance.
- 22284829 title "X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development" provenance.
- 21549341 title "Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6" provenance.
- 16598045 title "Role of COL4A1 in small-vessel disease and hemorrhagic stroke." provenance.
- 9691089 title "Molecular basis of hepatic carnitine palmitoyltransferase I deficiency." provenance.
- 10556299 title "Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin" provenance.
- 22305527 title "DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation." provenance.
- 21295283 title "Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa." provenance.
- 22306653 title "Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility" provenance.
- 19776401 title "Combined immunodeficiency associated with DOCK8 mutations" provenance.
- 11704758 title "Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter" provenance.
- 11704758 title "Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter" provenance.
- 21907011 title "Translation initiator EIF4G1 mutations in familial Parkinson disease" provenance.
- 10581030 title "Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis." provenance.
- 19463982 title "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome." provenance.
- 11506403 title "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis" provenance.
- 18274675 title "Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy" provenance.
- 18274675 title "Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy" provenance.
- 15121789 title "Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome." provenance.
- 11062483 title "The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy" provenance.
- 8613547 title "Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene" provenance.
- 8541831 title "Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli" provenance.