Résultats de la recherche - Adel M. Ashour
- Résultat(s) 1 - 2 résultats de 2
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1
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome par Ranad Shaheen, Mona Aglan, Kim M. Keppler‐Noreuil, Eissa Faqeih, Shinu Ansari, Kim Horton, Adel M. Ashour, Maha S. Zaki, Fatema Alzahrani, Anna M. Cueto‐González, Ghada M. H. Abdel‐Salam, Samia A. Temtamy, Fowzan S. Alkuraya
Publié 2013Artigo -
2
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum par Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan, Eulalia Valencia, Víctor Martínez‐Glez, María Juliana Ballesta‐Martínez, Vanesa López‐González, Adel M. Ashour, Khalda Amr, Verónica Pulido, Encarna Guillén‐Navarro, Pablo Lapunzina, José A. Caparrós‐Martín, Víctor L. Ruiz‐Pérez
Publié 2012Artigo
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Sujets similaires
Biology
Gene
Genetics
Phenotype
Alternative splicing
Anatomy
Connective Tissue Disorder
Connective tissue
Consanguinity
Disease gene identification
Exome
Exome sequencing
Exon
Frameshift mutation
Genetic heterogeneity
Locus (genetics)
Medicine
Missense mutation
Mutation
Osteogenesis imperfecta
Pathology
Splice site mutation