Resultados da busca - Mohammad El-Khateeb
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A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability por Poh Hui Chia, Franklin L. Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F. Nelson, William Xie, Samah Al‐Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A. Pouladi, Mohammed Al‐Raqad, Bruno Reversade
Publicado em 2018Artigo -
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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex por Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al‐Rawashdeh, Osama H. Ababneh, Mohammad El-Khateeb, Nathalie Escande‐Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner
Publicado em 2022Artigo
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Biology
Gene
Genetics
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Phenotype
Amelogenesis imperfecta
Anatomy
Bandwidth (computing)
Ciliopathy
Cilium
Computational biology
Computer network
Computer science
Dentistry
Enamel paint
Endocrinology
Exome
Exome sequencing
Germline
Integrator
Intellectual disability
Internal medicine
Kidney
Loss function
Medicine
Missense mutation
Nephrocalcinosis
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