Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 22560091 title "A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome." provenance.
- 22560091 title "A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome." provenance.
- 21549339 title "A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia." provenance.
- 1730088 title "Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease." provenance.
- 8499925 title "DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency." provenance.
- 9020843 title "Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness" provenance.
- 8896573 title "Mutations in the glutathione synthetase gene cause 5-oxoprolinuria" provenance.
- 8896573 title "Mutations in the glutathione synthetase gene cause 5-oxoprolinuria" provenance.
- 11489939 title "Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion" provenance.
- 23000143 title "A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability." provenance.
- 18775957 title "Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis" provenance.
- 7655856 title "Hexokinase mutations that produce nonspherocytic hemolytic anemia." provenance.
- 11968094 title "A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome" provenance.
- 15146389 title "A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease" provenance.
- 17236141 title "Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome" provenance.
- 12696021 title "2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene." provenance.
- 11101850 title "Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)." provenance.
- 10339581 title "Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX" provenance.
- 19185282 title "A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems." provenance.
- 20847235 title "IDH2 mutations in patients with D-2-hydroxyglutaric aciduria" provenance.
- 16950813 title "IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease." provenance.
- 16950813 title "IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease." provenance.
- 19890111 title "Inflammatory bowel disease and mutations affecting the interleukin-10 receptor." provenance.
- 19890111 title "Inflammatory bowel disease and mutations affecting the interleukin-10 receptor." provenance.
- 21255762 title "Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42." provenance.
- 21549340 title "Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP." provenance.
- 16384941 title "Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis" provenance.
- 20673862 title "Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa." provenance.
- 20023659 title "Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis" provenance.
- 18192540 title "Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes." provenance.
- 19425169 title "Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation." provenance.
- 11297579 title "The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics." provenance.
- 8923010 title "Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy" provenance.
- 20560207 title "Identification of a Kir3.4 mutation in congenital long QT syndrome" provenance.
- 12522251 title "KCNQ1 gain-of-function mutation in familial atrial fibrillation" provenance.
- 15159330 title "Mutation in the KCNQ1 gene leading to the short QT-interval syndrome." provenance.
- 21376300 title "Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability" provenance.
- 21376300 title "Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability" provenance.
- 21376300 title "Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability" provenance.
- 21376300 title "Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability" provenance.
- 21055716 title "A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia" provenance.
- 20711175 title "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome" provenance.
- 7528239 title "A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma." provenance.
- 16525032 title "A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type" provenance.
- 16459341 title "Mutations of human TMHS cause recessively inherited non-syndromic hearing loss." provenance.
- 10835633 title "Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency" provenance.
- 12927431 title "LMNA mutations in atypical Werner's syndrome" provenance.
- 21471202 title "Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function" provenance.
- 17332414 title "LRP6 mutation in a family with early coronary disease and metabolic risk factors." provenance.
- 19836010 title "Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development." provenance.
- 8464497 title "Human lysozyme gene mutations cause hereditary systemic amyloidosis." provenance.
- 11772997 title "Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma" provenance.
- 11601501 title "Pick's disease associated with the novel Tau gene mutation K369I." provenance.
- 19344878 title "Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3" provenance.
- 19361614 title "IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response" provenance.
- 11181649 title "The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency" provenance.
- 11181649 title "The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency" provenance.
- 21868677 title "MED23 mutation links intellectual disability to dysregulation of immediate early gene expression." provenance.
- 18385497 title "Gene identification for the cblD defect of vitamin B12 metabolism." provenance.
- 16582910 title "MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion" provenance.
- 10553995 title "The Roussy-L�vy family: from the original description to the gene." provenance.
- 21185009 title "Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74." provenance.
- 8696335 title "A human MSX1 homeodomain missense mutation causes selective tooth agenesis" provenance.
- 20818383 title "High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency." provenance.
- 20818383 title "High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency." provenance.
- 20045868 title "Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1." provenance.
- 15821734 title "MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome." provenance.
- 15015131 title "Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)" provenance.
- 16642020 title "Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome" provenance.
- 11106718 title "Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy" provenance.
- 11106718 title "Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy" provenance.
- 15322983 title "Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)." provenance.
- 15111675 title "Mutations in myotilin cause myofibrillar myopathy" provenance.
- 16380616 title "A mutation in myotilin causes spheroid body myopathy" provenance.
- 21700266 title "Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency" provenance.
- 8782044 title "Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype" provenance.
- 19463981 title "Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease" provenance.
- 19463981 title "Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease" provenance.
- 10841809 title "A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene." provenance.
- 14523047 title "A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency." provenance.
- 12958597 title "Mutations in NHLRC1 cause progressive myoclonus epilepsy." provenance.
- 18523010 title "Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita" provenance.
- 15317751 title "Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis." provenance.
- 17701902 title "NOBOX homeobox mutation causes premature ovarian failure" provenance.
- 11528384 title "CARD15 mutations in Blau syndrome." provenance.
- 16773578 title "NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway" provenance.
- 15146390 title "Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux" provenance.
- 10655056 title "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate." provenance.
- 16786527 title "Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis." provenance.
- 9199559 title "Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome." provenance.
- 15627218 title "Dent Disease with mutations in OCRL1" provenance.
- 20428114 title "Mutations of optineurin in amyotrophic lateral sclerosis" provenance.
- 19690585 title "Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis." provenance.
- 8447316 title "Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)" provenance.
- 18469813 title "X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment." provenance.
- 19615668 title "Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders." provenance.
- 21035104 title "Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23." provenance.
- 8447317 title "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency" provenance.
- 6933565 title "Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia" provenance.
- 21493957 title "Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN." provenance.