检索结果 - Asma Sunker
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Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome 由 Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al‐Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya
出版 2011Artigo -
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POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism 由 Ranad Shaheen, Eissa Faqeih, Hanan E. Shamseldin, Ramil R. Noche, Asma Sunker, Muneera J. Alshammari, Tarfa Al‐Sheddi, Nouran Adly, Mohammed S. Al-Dosari, Sean G. Megason, Muneera Al-Husain, Futwan Al‐Mohanna, Fowzan S. Alkuraya
出版 2012Artigo -
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Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies 由 Nisha Patel, Mohammed A. Aldahmesh, Hisham Alkuraya, Shamsa Anazi, Hadeel Alsharif, Arif O. Khan, Asma Sunker, Saleh Al-mohsen, Emad B. Abboud, Sawsan R. Nowilaty, Mohammed Al‐Owain, Hamad Alzaidan, Bandar Al‐Saud, Ali Alasmari, Ghada M. H. Abdel‐Salam, Mohamed Abouelhoda, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al‐Younes, Abeer Al‐Mostafa, Abdulelah AlIssa, Mais Hashem, Olga Buzovetsky, Yong Xiong, Dorota Monies, Nada Al Tassan, Ranad Shaheen, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya
出版 2015Artigo
相关主题
Biology
Gene
Genetics
Phenotype
Ciliopathy
Exome sequencing
Genetic heterogeneity
Locus (genetics)
Mutation
Actin cytoskeleton
Allele
Allelic heterogeneity
CDC42
Cell
Cell biology
Cell division
Computer science
Cytokinesis
Cytoskeleton
Dwarfism
Exome
GTPase
Guanine nucleotide exchange factor
Haploinsufficiency
Hedgehog
Locus heterogeneity
Machine learning
Medicine
Retinitis pigmentosa
Truncation (statistics)