Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 25193871 title "Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)" provenance.
- 25658047 title "COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency." provenance.
- 24680889 title "De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability." provenance.
- 25361784 title "Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome." provenance.
- 27018474 title "Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice" provenance.
- 25970010 title "X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men." provenance.
- 25355836 title "Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features." provenance.
- 25480035 title "Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability." provenance.
- LIDDI_resource:SID2920 title "insulin detemir" assertion.
- 24911150 title "Hypomorphic PCNA mutation underlies a human DNA repair disorder." provenance.
- 20655036 title "Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase." provenance.
- 25938945 title "Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export" provenance.
- dataset_extraction title "Webcrawled and annotated using indicated method" provenance.
- 1896471 title "cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia" provenance.
- 21345103 title "Perilipin deficiency and autosomal dominant partial lipodystrophy." provenance.
- 25061177 title "A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene." provenance.
- 1439789 title "Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism." provenance.
- 9241266 title "Germline mutations in PTEN are present in Bannayan-Zonana syndrome." provenance.
- 26026163 title "Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia." provenance.
- 26026163 title "Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia." provenance.
- 26320891 title "Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa" provenance.
- 24656866 title "Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures" provenance.
- 11791205 title "Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome" provenance.
- dataset_extraction title "Software Generated." provenance.
- 25424902 title "Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia." provenance.
- 25424902 title "Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia." provenance.
- 9988267 title "The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia" provenance.
- 24829207 title "Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families." provenance.
- 24412933 title "Mutation of SALL2 causes recessive ocular coloboma in humans and mice" provenance.
- 25930971 title "A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly." provenance.
- 9354798 title "Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome." provenance.
- 14593171 title "alpha-Synuclein locus triplication causes Parkinson's disease" provenance.
- 10762540 title "Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain." provenance.
- 22010916 title "Inflammatory skin and bowel disease linked to ADAM17 deletion." provenance.
- 26637982 title "TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations" provenance.
- 27426734 title "Heterozygous Mutations in MAP3K7, Encoding TGF-?-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome." provenance.
- 24702954 title "Rare variants in NR2F2 cause congenital heart defects in humans." provenance.
- 26744459 title "Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome." provenance.
- 9497262 title "A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA" provenance.
- 1991834 title "Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation." provenance.
- 26642243 title "Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease." provenance.
- 3258663 title "Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease." provenance.
- 8602509 title "Positional cloning of the Werner's syndrome gene" provenance.
- 25434006 title "MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections." provenance.
- 26643951 title "OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome." provenance.
- 26903630 title "A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait" provenance.
- 24827035 title "A form of the metabolic syndrome associated with mutations in DYRK1B" provenance.
- 24614073 title "Mutations in TJP2 cause progressive cholestatic liver disease." provenance.
- 26084283 title "Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid." provenance.
- 26078401 title "A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy" provenance.
- 26595769 title "TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism." provenance.
- 25521378 title "Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors." provenance.
- 21548011 title "Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene" provenance.
- 23479643 title "Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure." provenance.
- 26522472 title "Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer" provenance.
- 26048982 title "Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy." provenance.
- 25434003 title "Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome." provenance.
- 27120771 title "Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations" provenance.
- 26637975 title "Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type." provenance.
- 26637975 title "Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type." provenance.
- 10835624 title "Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome" provenance.
- 26642364 title "POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking" provenance.
- 26942288 title "Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy." provenance.
- 26544806 title "Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering" provenance.
- 25480037 title "Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome." provenance.
- 27399968 title "Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity." provenance.
- 26188006 title "Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor" provenance.
- 24852644 title "Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12." provenance.
- 25168386 title "Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome." provenance.
- 22698282 title "FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man." provenance.
- 25256757 title "The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome." provenance.
- 23716654 title "ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature" provenance.
- 25832664 title "Loss of PCLO function underlies pontocerebellar hypoplasia type III." provenance.
- 26046368 title "Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia." provenance.
- 11407343 title "Identification of a gene responsible for familial Wolff-Parkinson-White syndrome" provenance.
- 25557784 title "DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling" provenance.
- 25601850 title "A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation" provenance.
- 24680887 title "Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy" provenance.
- 22628558 title "A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans." provenance.
- 23349227 title "Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis" provenance.
- 23531866 title "Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans" provenance.
- 23814038 title "Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes." provenance.
- 23857908 title "Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12" provenance.
- 24014394 title "A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity." provenance.
- 24367057 title "Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome" provenance.
- 24577744 title "VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)." provenance.
- 24671081 title "Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair" provenance.
- 24726473 title "Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5." provenance.
- 24726473 title "Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5." provenance.
- 24786642 title "The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia" provenance.
- 24891338 title "SLC39A5 mutations interfering with the BMP/TGF-? pathway in non-syndromic high myopia" provenance.
- 24906020 title "Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations" provenance.
- 24925317 title "TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy" provenance.
- 25008109 title "A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability" provenance.
- 25029335 title "Activated STING in a vascular and pulmonary syndrome." provenance.
- 25192047 title "Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy." provenance.
- 25250574 title "Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy." provenance.
- 25385754 title "An inherited mutation in NLRC4 causes autoinflammation in human and mice." provenance.
- 25434004 title "Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy." provenance.
- 26094573 title "RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy." provenance.