Nanopublications LDF server

Matches in Nanopublications for { ?s ?p "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }

• NP948506.RAAlzac5sG7xUElfpvWZUag-jGGoFRlbAD2chLrmUY80k130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP948506.RAAlzac5sG7xUElfpvWZUag-jGGoFRlbAD2chLrmUY80k130_provenance.
• NP357293.RA9EJbDYE8cM9WX52cM1osRXXhbdl0Scj4RHStBXR4nNQ130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357293.RA9EJbDYE8cM9WX52cM1osRXXhbdl0Scj4RHStBXR4nNQ130_provenance.
• NP357484.RA-jBPnFEtY6EQ7OLLHuApy22PrOXXVWvx_QwHR8sRCVk130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357484.RA-jBPnFEtY6EQ7OLLHuApy22PrOXXVWvx_QwHR8sRCVk130_provenance.
• NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1172966.RACO7jntjuTn9qMihxhaQdS85-b6xAHGNSfDsbZNVKjVs130_provenance.
• assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• NP948498.RAxN3yvha0iYr_m47oJiicOw6zF4__8YsvMAZqMGjX2uY130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP948498.RAxN3yvha0iYr_m47oJiicOw6zF4__8YsvMAZqMGjX2uY130_provenance.
• NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP948511.RAV4dveFm5hps6PWhc0p67uyv7xRy7uNVV8v_0RNMijmA130_provenance.
• NP1172967.RA3tgAXi3ox-YN9w4I_tlEJq27N1jz6RtLCTzPZnP59wQ130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1172967.RA3tgAXi3ox-YN9w4I_tlEJq27N1jz6RtLCTzPZnP59wQ130_provenance.
• NP1172970.RA1apcTSsAQ3Afh_EdD2syVDNb96ACSAb_fiXu1PdrdBg130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1172970.RA1apcTSsAQ3Afh_EdD2syVDNb96ACSAb_fiXu1PdrdBg130_provenance.
• NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1172972.RAwQMqCIwMIUklpy952XGsxFwiAjGFbOhpe6fcpjXTh-c130_provenance.
• NP357383.RAMqrOnhYAVOxK5XJ9cz5aQWC_vfj5fbsq49DmxtJWmJQ130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357383.RAMqrOnhYAVOxK5XJ9cz5aQWC_vfj5fbsq49DmxtJWmJQ130_provenance.
• NP1172964.RAHVzAOpFMtceGpUXGH--pcIsolTdkL_eyNchBa_IMDwo130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1172964.RAHVzAOpFMtceGpUXGH--pcIsolTdkL_eyNchBa_IMDwo130_provenance.
• NP1172965.RAOiQAl4dQMab9NrSrMQbYJCp4ACOUZGRfN5M3-h9Wo9o130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1172965.RAOiQAl4dQMab9NrSrMQbYJCp4ACOUZGRfN5M3-h9Wo9o130_provenance.
• NP1172962.RAkaHOmQ0DsITc_zu1nxcs6uilGgIgmlAW1yGKYS-91MM130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1172962.RAkaHOmQ0DsITc_zu1nxcs6uilGgIgmlAW1yGKYS-91MM130_provenance.
• NP1172968.RAtpK6NiOxHxmx7BeX39jUb3aMrojHjdFRAGBVEiILwHc130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1172968.RAtpK6NiOxHxmx7BeX39jUb3aMrojHjdFRAGBVEiILwHc130_provenance.
• NP948508.RAHCUCBSw6T7UuNrPx8zX8QtErIPR-3jjsD-pBVFZLW3k130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP948508.RAHCUCBSw6T7UuNrPx8zX8QtErIPR-3jjsD-pBVFZLW3k130_provenance.
• assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_assertion description "[We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357423.RAlXKkzTCDJOVS0Nel4SsXloyn9Emwqt_ZfPqZINDvZz8130_provenance.