Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 14765194 title "Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2" provenance.
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- 20170899 title "Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79" provenance.
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- 17660820 title "C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy." provenance.
- 8358442 title "Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients" provenance.
- 10577904 title "Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia." provenance.
- 8723097 title "A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia" provenance.
- 2564168 title "Linkage of a prion protein missense variant to Gerstmann-Str�ussler syndrome." provenance.
- 24216514 title "A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells." provenance.
- 17225135 title "Autosomal recessive juvenile onset cataract associated with mutation in BFSP1." provenance.
- 22961547 title "Early-onset Lafora body disease" provenance.
- 23314057 title "Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy." provenance.
- 12355089 title "ASPM is a major determinant of cerebral cortical size" provenance.
- 20697052 title "Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations." provenance.
- 2696185 title "The alpha 1-antitrypsin gene and its deficiency states." provenance.
- 8896555 title "Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2." provenance.
- 3319190 title "Dystrophin: the protein product of the Duchenne muscular dystrophy locus" provenance.
- 19423727 title "Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M." provenance.
- 15136966 title "Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene." provenance.
- 20700148 title "Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3." provenance.
- 23176820 title "Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA." provenance.
- 19800048 title "OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin" provenance.
- 10417273 title "Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene" provenance.
- 17044012 title "Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy" provenance.
- 9546392 title "Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII" provenance.
- 9506947 title "Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans" provenance.
- 8488849 title "Diverse growth hormone receptor gene mutations in Laron syndrome." provenance.
- 10647011 title "Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene" provenance.