Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 9500542 title "A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis" provenance.
- 22341969 title "Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome." provenance.
- 21763481 title "Disruption of a ciliary B9 protein complex causes Meckel syndrome" provenance.
- 15452077 title "Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)." provenance.
- 19206169 title "Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum." provenance.
- 19206169 title "Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum." provenance.
- 21981780 title "Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation." provenance.
- 8898206 title "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4" provenance.
- 8898206 title "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4" provenance.
- 15454078 title "Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism" provenance.
- 9662399 title "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness" provenance.
- 22703878 title "Familial pityriasis rubra pilaris is caused by mutations in CARD14." provenance.
- 12353035 title "Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency" provenance.
- 11431690 title "Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease" provenance.
- 17060380 title "Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome" provenance.
- 23012439 title "Mutations in TMEM231 cause Joubert syndrome in French Canadians." provenance.
- 16399879 title "Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia." provenance.
- 11675497 title "Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM." provenance.
- 19012874 title "Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability." provenance.
- 19012874 title "Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability." provenance.
- 11138009 title "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D" provenance.
- 15805154 title "Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)" provenance.
- 15300250 title "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome" provenance.
- 18834967 title "Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome" provenance.
- 11435464 title "Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita" provenance.
- 7531341 title "Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit" provenance.
- 16782820 title "Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient" provenance.
- 1379744 title "The skeletal muscle chloride channel in dominant and recessive human myotonia" provenance.
- 10390358 title "Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption" provenance.
- 19494034 title "Golgi function and dysfunction in the first COG4-deficient CDG type II patient." provenance.
- 7859284 title "Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus" provenance.
- 7859284 title "Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus" provenance.
- 10581026 title "Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)" provenance.
- 22437503 title "Role of corin in trophoblast invasion and uterine spiral artery remodelling in pregnancy" provenance.
- 12560874 title "DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency." provenance.
- 12509788 title "Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene" provenance.
- 8703060 title "Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency" provenance.
- 16142236 title "Identification of mutations in CUL7 in 3-M syndrome." provenance.
- 22019272 title "Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid" provenance.
- 16436457 title "Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3." provenance.
- 11857564 title "Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency." provenance.
- 8798680 title "Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype" provenance.
- 23141293 title "DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria." provenance.
- 21722859 title "Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64." provenance.
- 19556464 title "DICER1 mutations in familial pleuropulmonary blastoma." provenance.
- 22387996 title "Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia." provenance.
- 12142464 title "Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia." provenance.
- 17273964 title "A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy" provenance.
- 11841538 title "Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome" provenance.
- 22459677 title "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy." provenance.
- 9731526 title "Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy" provenance.
- 9731526 title "Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy" provenance.
- 16685658 title "Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome" provenance.
- 17671655 title "Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia." provenance.
- 9537424 title "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies" provenance.
- 9537424 title "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies" provenance.
- 10932183 title "EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome" provenance.
- 18572020 title "Identification of EpCAM as the gene for congenital tufting enteropathy" provenance.
- 17183314 title "A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis" provenance.
- 9096355 title "A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function" provenance.
- 22177091 title "Mutations in EZH2 cause Weaver syndrome." provenance.
- 8324218 title "Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII." provenance.
- 21109225 title "Whole-exome-sequencing-based discovery of human FADD deficiency" provenance.
- 23684011 title "FAM111A mutations result in hypoparathyroidism and impaired skeletal development." provenance.
- 23684011 title "FAM111A mutations result in hypoparathyroidism and impaired skeletal development." provenance.
- 11239453 title "Positional cloning of a novel Fanconi anemia gene, FANCD2" provenance.
- 18513678 title "Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays." provenance.
- 11062477 title "Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23" provenance.
- 17236138 title "Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia" provenance.
- 18596921 title "Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice" provenance.
- 7874169 title "A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome" provenance.
- 7874169 title "A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome" provenance.
- 11173846 title "An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly." provenance.
- 16501574 title "Mutations in different components of FGF signaling in LADD syndrome." provenance.
- 16501574 title "Mutations in different components of FGF signaling in LADD syndrome." provenance.
- 22387015 title "Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling." provenance.
- 17036286 title "Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness" provenance.
- 21931569 title "Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice" provenance.
- 17013395 title "Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus." provenance.
- 19559399 title "Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations." provenance.
- 19251627 title "Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis" provenance.
- 21636066 title "Mutations in FYCO1 cause autosomal-recessive congenital cataracts." provenance.
- 15733276 title "Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity." provenance.
- 19118303 title "A syndrome with congenital neutropenia and mutations in G6PC3" provenance.
- 8651279 title "Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency" provenance.
- 17643447 title "Spectrum of heart disease associated with murine and human GATA4 mutation" provenance.
- 20631719 title "A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect." provenance.
- 19666519 title "GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling" provenance.
- 19864492 title "Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies" provenance.
- 19864492 title "Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies" provenance.
- 19864492 title "Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies" provenance.
- 19864492 title "Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies" provenance.
- 9288098 title "Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1" provenance.
- 16127465 title "Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2" provenance.
- 12778173 title "Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2" provenance.
- 12778173 title "Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2" provenance.
- 7565946 title "Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group" provenance.
- 15482471 title "Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2." provenance.
- 9843209 title "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis" provenance.
- 9843210 title "Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment" provenance.