Matches in Nanopublications for { ?s ?p "[Molecular studies were performed for Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, also known as KAL2) by sequence analysis for all the coding exons, by PCR-based deletion analysis, and by fluorescence in situ hybridization (FISH) analysis, showing six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases and two novel intragenic FGFR1 mutations in two sporadic male cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion description "[Molecular studies were performed for Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, also known as KAL2) by sequence analysis for all the coding exons, by PCR-based deletion analysis, and by fluorescence in situ hybridization (FISH) analysis, showing six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases and two novel intragenic FGFR1 mutations in two sporadic male cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.
- NP61101.RAIgfc9pgNLYsv-pga8CtvDLcMc58ZUmkirRPvlwmoc4E130_assertion description "[Molecular studies were performed for Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, also known as KAL2) by sequence analysis for all the coding exons, by PCR-based deletion analysis, and by fluorescence in situ hybridization (FISH) analysis, showing six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases and two novel intragenic FGFR1 mutations in two sporadic male cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP61101.RAIgfc9pgNLYsv-pga8CtvDLcMc58ZUmkirRPvlwmoc4E130_provenance.