Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy ; volume:24 ; number:1 ; day:23 ; month:4 ; year:2024 ; pages:1-6 ; date:12.2024
BMC cardiovascular disorders ; 24, Heft 1 (23.4.2024), 1-6, 12.2024
- Creator
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Pourirahim, Maryam
Houshmand, Golnaz
Abdolkarimi, Leyla
Maleki, Majid
Kalayinia, Samira
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s12872-024-03878-z
- URN
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urn:nbn:de:101:1-2407090912518.620091049332
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 11:01 AM CEST
Data provider
This object is provided by:
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Pourirahim, Maryam
- Houshmand, Golnaz
- Abdolkarimi, Leyla
- Maleki, Majid
- Kalayinia, Samira
- SpringerLink (Online service)
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Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
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Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1)
Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
Arrhythmogenic cardiomyopathy
Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls – Two pathways to success
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Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1)
Splice processes in the neurofibromatosis type 1 (NF1) gene : relevance and evolution
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
Evaluation of quality of life in adults with neurofibromatosis 1 (NF1) using the Impact of NF1 on Quality Of Life (INF1-QOL) questionnaire
Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1)
Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation
Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
Arrhythmogenic cardiomyopathy
Conflict processing in juvenile patients with neurofibromatosis type 1 (NF1) and healthy controls – Two pathways to success
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
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