Matches in Nanopublications for { ?s ?p "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP211435.RA0S10x1CO_fTCF_etkcJmhZi6I21cjUufSRA46HvTjU4130_provenance.
- NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP403150.RAYi5_offAGRq0qXaxvjwLo0RT2GXjyY1BVi5bNlbfTlI130_provenance.
- NP560447.RA2mTTx7UtUc1UVpgmNgmKgUbCrhx0yu3wOzzjLjGTdVw130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP560447.RA2mTTx7UtUc1UVpgmNgmKgUbCrhx0yu3wOzzjLjGTdVw130_provenance.
- NP806704.RAx2o5nR_vIb3yzvon_odFptRPBUSAGDmxh7B469ICsY4130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP806704.RAx2o5nR_vIb3yzvon_odFptRPBUSAGDmxh7B469ICsY4130_provenance.
- NP984256.RAWSQG6DiZO1QduQbbplPvP-ML0vyA4xSQaGSWVBmCUIU130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP984256.RAWSQG6DiZO1QduQbbplPvP-ML0vyA4xSQaGSWVBmCUIU130_provenance.
- assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP834351.RAfsT0anxFRblJszWpJoLz-5LSOYR7IL4Zt3jq8yAtdvA130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP834351.RAfsT0anxFRblJszWpJoLz-5LSOYR7IL4Zt3jq8yAtdvA130_provenance.
- NP834350.RAtNcyGFZt6PNEd82pA_AZDMH8qjJ_M8Ynfwg0MkzYMy8130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP834350.RAtNcyGFZt6PNEd82pA_AZDMH8qjJ_M8Ynfwg0MkzYMy8130_provenance.
- NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP984268.RAJV1gzIQ0QWsWEIbhzNaOuLjm6YxfWuB5tCOiYg4ac6M130_provenance.
- NP984259.RA6UJlYqQ0vFUoLweUAZLTSBZkFZ3mV4g4h9et__6CWho130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP984259.RA6UJlYqQ0vFUoLweUAZLTSBZkFZ3mV4g4h9et__6CWho130_provenance.
- NP834352.RAIalTK9pTKVLl_vcNqAW2vTEBnybwA60TGFuPPH_rawo130_assertion description "[Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP834352.RAIalTK9pTKVLl_vcNqAW2vTEBnybwA60TGFuPPH_rawo130_provenance.