Ngā hua rapu - Jumana Y. Al-Aama

Specialty Grand Challenge - Genetic Disorders mā Jumana Y Al-Aama

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A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family mā Nagwa E. A. Gaboon, Asia Parveen, Asia Parveen, Ahmed El Beheiry, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Mosab S. Alsaedi, Naveed Wasif, Naveed Wasif, Naveed Wasif

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A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients mā Nagwa E. A. Gaboon, Asia Parveen, Asia Parveen, Khaled A. Ahmad, Taghreed Shuaib, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Lereen Abdelwehab, Amina Arif, Naveed Wasif, Naveed Wasif, Naveed Wasif

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Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families mā Omar I. Saadah, Omar I. Saadah, Babajan Banaganapalli, Babajan Banaganapalli, Naglaa M. Kamal, Naglaa M. Kamal, Ahmed N. Sahly, Ahmed N. Sahly, Hadeel A. Alsufyani, Arif Mohammed, Aftab Ahmad, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Noor Ahmad Shaik, Noor Ahmad Shaik, Ramu Elango, Ramu Elango

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