Matches in Nanopublications for { ?s ?p "[We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP919838.RAegwondlqtlcnFhxKePlAaZA0IA9L9rYQhtjLYwTVaXQ130_assertion description "[We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919838.RAegwondlqtlcnFhxKePlAaZA0IA9L9rYQhtjLYwTVaXQ130_provenance.
- NP908141.RACiiMkPgsBMqvGlMYUY25SDtIfGrVT5cnbCbG9H_TNSE130_assertion description "[We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP908141.RACiiMkPgsBMqvGlMYUY25SDtIfGrVT5cnbCbG9H_TNSE130_provenance.
- NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_assertion description "[We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP908140.RAa7I2fvggvPhp1wte1mGOr_VkAeT1dpurXZhVezg0M2A130_provenance.
- NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_assertion description "[We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_provenance.
- NP919851.RA17Rid_X6R-Rlet7OcZXr9bpfFVq2jtO5KAlHW89q-5Q130_assertion description "[We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919851.RA17Rid_X6R-Rlet7OcZXr9bpfFVq2jtO5KAlHW89q-5Q130_provenance.
- NP908142.RA8jBR9OUSXkLv_WNn3ClUtGirbWbvvA5ihWLAakm1xY8130_assertion description "[We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP908142.RA8jBR9OUSXkLv_WNn3ClUtGirbWbvvA5ihWLAakm1xY8130_provenance.