Matches in Nanopublications for { ?s ?p "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP304435.RAnP0cdYDvTC0hN5n0TOKa5fr6T8y-G__SqAqYgtwGXBg130_provenance.
- NP198652.RAtMfFrp527HXFWlRHvaojzZ00IpXaMH0mKaRvsmwOb5w130_assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP198652.RAtMfFrp527HXFWlRHvaojzZ00IpXaMH0mKaRvsmwOb5w130_provenance.
- assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420527.RAVRAQwSe6OgWS16rgfPcdx_mGQCc65qO6ZQu2kBn3t3I130_provenance.
- NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420526.RAPygK483Q2UDxlZ4uLQ2EWRxhdDZFtHmZtOp-du5epzU130_provenance.
- NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_assertion description "[This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420528.RA0fY2ZyhLpjevT40ge4S5mEOCw3A3Z_sICZxa9yUAsHM130_provenance.