Author/Creator: Ijaz, Ambreen - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Ijaz, Ambreen

1. Novel insertion and a previously reported nonsense variant of ALOXE3 gene lead to autosomal recessive ichthyosis in two Balochi families. (12th October 2018)

Authors:: Ijaz, Ambreen; Jelani, Musharraf; Panezai, Anila; Rabbani, Tahmina; Rasool, Iftikhar A.; Ahmad, Jamil; Wali, Abdul
Journal:: Congenital anomalies
Issue:: Volume 59:Number 5(2019)
Page Start:: 179
Record Type:: Journal Article
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2. UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan. Issue 3 (September 2019)

Authors:: Ijaz, Ambreen; Wolf, Sabrina; Mandukhail, Safur Rehman; Basit, Sulman; Betz, Regina C.; Wali, Abdul
Journal:: Journal of dermatological science
Issue:: Volume 95:Issue 3(2019)
Page Start:: 113
Record Type:: Journal Article
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3. XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect. (15th April 2018)

Authors:: Ijaz, Ambreen; Basit, Sulman; Gul, Ajab; Batool, Lilas; Hussain, Abrar; Afzal, Sibtain; Ramzan, Khushnooda; Ahmad, Jamil; Wali, Abdul
Journal:: Congenital anomalies
Issue:: Volume 59:Number 1(2019)
Page Start:: 18
Record Type:: Journal Article
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