Matches in Nanopublications for { ?s ?p "[Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_assertion description "[Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215938.RAn6gyx3NQhQn1i8P_mrsURY6lTKKHVs3_RJpPaoy4o70130_provenance.
- NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_assertion description "[Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215941.RAomF8kGq5yxsoX-9TdQE9NZjmmtHyB1LMm01pNyImmhc130_provenance.
- NP1215942.RAr2PaWQka2Y1Onc4zmBAMuQ5tUY-QnfmJYDiicyH7Jfg130_assertion description "[Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215942.RAr2PaWQka2Y1Onc4zmBAMuQ5tUY-QnfmJYDiicyH7Jfg130_provenance.
- NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_assertion description "[Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215940.RA7FYSdOV7u9H6ghPAmQHM4ka555qcaKA6D7vCdeOi0IU130_provenance.