Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy
Sharaf-Eldin, Wessam E., Rafat, Karima, Issa, Mahmoud Y., Elbendary, Hasnaa M., Eissa, Noura R., Hawaary, Bahaa, Gaboon, Nagwa E. A., Maroofian, Reza, Gleeson, Joseph G., Essawi, Mona L., Zaki, Maha S.
Published in Journal of molecular neuroscience (05.10.2024)
Published in Journal of molecular neuroscience (05.10.2024)
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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
Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia
A. Gaboon, Nagwa E., Bakur, Khadijah H., Edrees, Alaa Y., Al-Aama, Jumana Y.
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2017)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2017)
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Journal Article
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 Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
Gaboon, Nagwa E. A., Parveen, Asia, Ahmad, Khaled A., Shuaib, Taghreed, Al-Aama, Jumana Y., Abdelwehab, Lereen, Arif, Amina, Wasif, Naveed
Published in Frontiers in pediatrics (16.07.2020)
Published in Frontiers in pediatrics (16.07.2020)
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Journal Article
Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis
Gaboon, Nagwa E. A., Jelani, Musharraf, Almramhi, Mona M., Mohamoud, Hussein S. A., Al-Aama, Jumana Y.
Published in Journal of dermatology (01.07.2015)
Published in Journal of dermatology (01.07.2015)
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Journal Article
Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia
Gaboon, Nagwa E. A., Bakur, Khadijah H., Edrees, Alaa Y., Al-Aama, Jumana Y.
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2017)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.09.2017)
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Journal Article
Oro-Facio-Digital Syndrome Type IX with Polydactyly and Multiple Intraocular Findings
Gaboon, Nagwa E. A., Al-Aama, Jumana Y.
Published in International journal of human genetics (01.06.2015)
Published in International journal of human genetics (01.06.2015)
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Journal Article
Hereditary periodic fever syndromes
Shawky, Rabah M., Gaboon, Nagwa E.A.
Published in The Egyptian journal of medical human genetics (01.11.2011)
Published in The Egyptian journal of medical human genetics (01.11.2011)
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Journal Article
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
Gaboon, Nagwa E A, Parveen, Asia, Ahmad, Khaled A, Shuaib, Taghreed, Al-Aama, Jumana Y, Abdelwehab, Lereen, Arif, Amina, Wasif, Naveed
Published in Frontiers in pediatrics (01.01.2020)
Published in Frontiers in pediatrics (01.01.2020)
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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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