Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 22889856 title "X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face." provenance.
- 21825139 title "Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa" provenance.
- 15368195 title "ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome" provenance.
- 23768514 title "Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89" provenance.
- 24140112 title "SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant." provenance.
- 23255827 title "Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification." provenance.
- 19944400 title "Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects" provenance.
- 23054245 title "Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation." provenance.
- 11398101 title "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F" provenance.
- 8282779 title "Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE)." provenance.
- dataset_extraction title "Webcrawled and annotated using indicated method" provenance.
- dataset_extraction title "Extracted from public dataset" provenance.
- 25132448 title "Mutations in NOTCH1 cause Adams-Oliver syndrome" provenance.
- 24676634 title "Mutations in PAX2 associate with adult-onset FSGS" provenance.
- 19847792 title "A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb." provenance.
- 24462372 title "NR2F1 mutations cause optic atrophy with intellectual disability." provenance.
- 23401021 title "Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1" provenance.
- 23561849 title "Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation." provenance.
- 14985377 title "Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy." provenance.
- 8434607 title "Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity." provenance.
- 17033974 title "Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy" provenance.
- dataset_extraction title "Software Generated." provenance.
- 22541559 title "Mutations in NSUN2 cause autosomal-recessive intellectual disability." provenance.
- 18931342 title "The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein" provenance.
- 8980225 title "Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2" provenance.
- 12576314 title "Characterization of molecular defects of Fitzgerald trait and another novel high-molecular-weight kininogen-deficient patient: insights into structural requirements for kininogen expression." provenance.
- 19631308 title "RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome." provenance.
- 21529752 title "The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis" provenance.
- 17047026 title "Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization" provenance.
- 24369075 title "Deficiency of innate and acquired immunity caused by an IKBKB mutation." provenance.
- 24812067 title "Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function." provenance.
- 24234652 title "LRP4 third ?-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner." provenance.
- 2462938 title "Aberrant restriction endonuclease digests of DNA from subjects with hereditary myeloperoxidase deficiency." provenance.
- 24781087 title "Homozygous truncating PTPRF mutation causes athelia." provenance.
- 24658003 title "TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function" provenance.
- 1675488 title "Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n." provenance.
- 23709756 title "Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion." provenance.
- 24598713 title "Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria." provenance.
- 2022752 title "Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease" provenance.
- 19666484 title "B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans." provenance.
- 24782409 title "Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy." provenance.
- 23727036 title "A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency." provenance.
- 24355708 title "PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum." provenance.
- 24488770 title "IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome" provenance.
- 24549039 title "Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination." provenance.
- 24031089 title "Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis." provenance.
- 24791903 title "De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea." provenance.
- 7874115 title "Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit" provenance.
- 24166846 title "A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium." provenance.
- 18513683 title "Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13." provenance.
- R1.1 title "R1.1" assertion.
- 25038750 title "Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease." provenance.
- 24591628 title "Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis." provenance.
- 23687350 title "Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly." provenance.
- R1 title "R1" assertion.
- dataset_extraction title "Extracted from public dataset" provenance.
- 24610330 title "PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome." provenance.
- 24997988 title "The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation." provenance.
- 25017102 title "Mutations in ZBTB20 cause Primrose syndrome." provenance.
- 24836451 title "Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH." provenance.
- dataset_extraction title "Publicly available dataset" provenance.
- dataset_extraction title "Extracted from public dataset" provenance.
- 25105228 title "Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis." provenance.
- 24597873 title "Mutations in HFM1 in recessive primary ovarian insufficiency." provenance.
- 23716552 title "Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I." provenance.
- 24747639 title "Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia" provenance.
- 24292273 title "EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension." provenance.
- 24747641 title "De novo mutations in HCN1 cause early infantile epileptic encephalopathy." provenance.
- 2880869 title "Leukocytes from four patients with complete or partial Leu-CAM deficiency contain the common beta-subunit precursor and beta-subunit messenger RNA." provenance.
- 24336167 title "Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling." provenance.
- 25344692 title "Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy." provenance.
- 19853237 title "Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta" provenance.
- 23958762 title "LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta" provenance.
- 10835631 title "Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome" provenance.
- 21092922 title "Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation." provenance.
- 24193349 title "A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome." provenance.
- A1.2 title "A1.2" assertion.
- 24045842 title "Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation." provenance.
- 23746550 title "De novo mutations in the genome organizer CTCF cause intellectual disability." provenance.
- 24439109 title "Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans" provenance.
- 24103465 title "Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype." provenance.
- 25070513 title "TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment." provenance.
- 24500646 title "Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons." provenance.
- 23122587 title "Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment." provenance.
- 24670872 title "SLC7A14 linked to autosomal recessive retinitis pigmentosa." provenance.
- 23818446 title "The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18" provenance.
- 24439110 title "Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation." provenance.
- 23453665 title "Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia." provenance.
- 24388663 title "Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia" provenance.
- 23738510 title "A congenital neutrophil defect syndrome associated with mutations in VPS45." provenance.
- 23704329 title "Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome." provenance.
- 24531329 title "A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP" provenance.
- 24619944 title "A frameshift mutation in GRXCR2 causes recessively inherited hearing loss" provenance.
- 26545878 title "Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene." provenance.
- 26491070 title "Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9." provenance.
- 24686847 title "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling." provenance.
- 26160376 title "IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations." provenance.
- dataset_extraction title "Extracted from public dataset" provenance.
- 7847376 title "Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy" provenance.
- 10354021 title "Lack of c-kit mutation in familial urticaria pigmentosa." provenance.