Matches in Nanopublications for { ?s ?p "[Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
Showing items 1 to 7 of
7
with 100 items per page.
- NP410141.RAYw7OjE8SNc5j15zRm8xpGD-pZdL9dkgfDPMNGNB90uM130_assertion description "[Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP410141.RAYw7OjE8SNc5j15zRm8xpGD-pZdL9dkgfDPMNGNB90uM130_provenance.
- assertion description "[Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_assertion description "[Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418442.RAeAjluzPAVe8J4qWqi27w-EXEHGLTeh-6FUyAkGq3oMA130_provenance.
- NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_assertion description "[Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP428301.RAkVpCUAiuGilEpJAL7RGYxsYS6YGtP1XlMNgAtOBT-nY130_provenance.
- NP428324.RAlznzaF3bbWvx_QkVwcd2-gUPrWnsO3pnyCJnnp14wZs130_assertion description "[Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP428324.RAlznzaF3bbWvx_QkVwcd2-gUPrWnsO3pnyCJnnp14wZs130_provenance.
- NP418441.RAoYhXLSP79UhiA5CXY8ZO-UWuNAhro8exdYtZDOfBUl8130_assertion description "[Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418441.RAoYhXLSP79UhiA5CXY8ZO-UWuNAhro8exdYtZDOfBUl8130_provenance.