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Shanaz Pasha

University of Birmingham

36

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1995

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Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease

2011 Molecular Genetics and Metabolism
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Micro and Martsolf Syndromes

2011
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Erratum: Loss-of-function mutations in RAB18 cause warburg micro syndrome (The American Journal of Human Genetics (2011) 88 (499-507))

2011 American Journal of Human Genetics
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Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

2011 American Journal of Human Genetics
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P10 Whole-exome-Sequencing-based discovery of novel syndromic form of neonatal cholestasis

2011 Gut
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Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

2011 Journal of Clinical Investigation
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Clinical and molecular investigation of autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy (ARTOAN)

2010
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Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

2010 Brain
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Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy

2010 Molecular Vision
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A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.

2010 Molecular Genetics and Metabolism
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Citations (31)