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Identification of a new homozygous CEP290 gene mutation in a Saudi family causing Joubert syndrome using next-generation sequencing
by
Khamis, Khamis
,
Abd al-Qadir, al-Badri
,
al-Sahlawi, Muthanna
,
al-Turki, Lulwah
,
Ahmad, Wasim
Published in
Saudi journal of kidney diseases and transplantation
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Saudi Journal Of Kidney Diseases And Transplantation
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Abnormalities, Multiple - Diagnosis
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Abnormalities, Multiple - Genetics
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Abnormalities, Multiple - Therapy
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Antigens, Neoplasm - Genetics
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Cell Cycle Proteins - Genetics
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Cerebellum - Abnormalities
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Chromosomes
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Chronic Kidney Failure
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Cognitive Ability
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Cytoskeletal Proteins - Genetics
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Diagnosis
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Diagnostic Imaging
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Dna Mutational Analysis - Methods
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Eye Abnormalities - Diagnosis
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Eye Movements
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Gene Mutation
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