دورية أكاديمية
Exome sequencing in Brown-Vialetto-van Laere syndrome.
| العنوان: | Exome sequencing in Brown-Vialetto-van Laere syndrome. |
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| المؤلفون: | Johnson, Janel O, Gibbs, J Raphael, Van Maldergem, Lionel, Houlden, Henry, Singleton, Andrew B |
| المصدر: | American Journal of Human Genetics, 87 (4), 567-9; author reply 569-70 (2010) |
| بيانات النشر: | University of Chicago Press |
| سنة النشر: | 2010 |
| المجموعة: | University of Liège: ORBi (Open Repository and Bibliography) |
| مصطلحات موضوعية: | Abnormalities, Multiple/genetics/pathology, Adolescent, Base Sequence, Bulbar Palsy, Progressive/genetics/pathology, Child, Preschool, Fatal Outcome, Female, Heterozygote, Humans, Male, Membrane Transport Proteins/genetics, Molecular Sequence Data, Mutation, Missense, Pedigree, Polymorphism, Single Nucleotide/genetics, Respiratory Insufficiency/genetics/pathology, Sequence Analysis, DNA, Syndrome, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques |
| الوصف: | peer reviewed |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0002-9297 1537-6605 |
| العلاقة: | urn:issn:0002-9297; urn:issn:1537-6605; https://orbi.uliege.be/handle/2268/82729Test; info:hdl:2268/82729; scopus-id:2-s2.0-77957732162; info:pmid:20920669 |
| DOI: | 10.1016/j.ajhg.2010.05.021 |
| الإتاحة: | https://doi.org/10.1016/j.ajhg.2010.05.021Test https://orbi.uliege.be/handle/2268/82729Test |
| حقوق: | restricted access ; http://purl.org/coar/access_right/c_16ecTest ; info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.5C82C01F |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 00029297 15376605 |
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| DOI: | 10.1016/j.ajhg.2010.05.021 |