Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects
Gaboon, Nagwa E.A., Banaganapalli, Babajan, Nasser, Khalidah, Razeeth, Mohammed, Alsaedi, Mosab S., Rashidi, Omran M., Abdelwehab, Lereen S., Alahmadi, Turki Saad, Safdar, Osama Y., Shaik, Jilani, Choudhry, Hani M.Z., Al-numan, Huda Husain, Khan, Mohammad Imran, Al-Aama, Jumana Y., Elango, Ramu, Shaik, Noor A.
Published in Saudi journal of biological sciences (01.01.2020)
Published in Saudi journal of biological sciences (01.01.2020)
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Journal Article
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
Gaboon, Nagwa E A, Parveen, Asia, El Beheiry, Ahmed, Al-Aama, Jumana Y, Alsaedi, Mosab S, Wasif, Naveed
Published in Frontiers in pediatrics (25.06.2019)
Published in Frontiers in pediatrics (25.06.2019)
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Journal Article
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
Gaboon, Nagwa E A, Parveen, Asia, El Beheiry, Ahmed, Al-Aama, Jumana Y, Alsaedi, Mosab S, Wasif, Naveed
Published in Frontiers in pediatrics (01.01.2019)
Published in Frontiers in pediatrics (01.01.2019)
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