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Nada Al-Sheqaih Selected Research

Deafness enamel hypoplasia nail defects

10/2016Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.
10/2015Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

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Nada Al-Sheqaih Research Topics

Disease

2Deafness enamel hypoplasia nail defects
10/2016 - 10/2015
2Sensorineural Hearing Loss
10/2016 - 10/2015
2Amelogenesis Imperfecta
10/2016 - 10/2015
2Malformed Nails (Pachyonychia)
10/2016 - 10/2015
1Peroxisomal Disorders (Peroxisomal Disorder)
10/2016
1Hearing Loss (Hearing Impairment)
03/2015
1Nonsyndromic Deafness
03/2015
1Leigh Disease (Leigh's Disease)
03/2015

Drug/Important Bio-Agent (IBA)

2Retinaldehyde (Retinal)IBA
10/2016 - 10/2015
1asparaginyl-tRNA synthetaseIBA
03/2015
1Mutant Proteins (Protein, Mutant)IBA
03/2015
1Complement System Proteins (Complement)IBA
03/2015
1Proteins (Proteins, Gene)FDA Link
03/2015
1Asn Transfer RNAIBA
03/2015