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Publications by Cheryl Shoubridge

Subtle Functional Defects in the Arf-Specific Guanine Nucleotide Exchange Factor IQSEC2 Cause Non-Syndromic X-Linked Intellectual Disability

Small GTPases
BiochemistryCell Biology
2010English

Heterozygous Loss of Function of IQSEC2/Iqsec2 Leads to Increased Activated Arf6 and Severe Neurocognitive Seizure Phenotype in Females

Life Science Alliance
Plant ScienceEcologyGeneticsMolecular BiologyBiochemistryMutagenesisHealthToxicology
2019English

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Exons Deletion of CNKSR2 Gene Identified in X-Linked Syndromic Intellectual Disability

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Xp11.22 Deletions Encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a Cause of Syndromic X-Linked Intellectual Disability

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X-Linked Intellectual Disability, Cantagrel Type

2020English

X-Linked Intellectual Disability, Pai Type

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X-Linked Intellectual Disability, Stoll Type

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X-Linked Intellectual Disability, Schimke Type

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X-Linked Intellectual Disability, Najm Type

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X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome

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