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Number of items: 2.

Journal Article

Uddin, Syed Ashraf, Cesarato, Nicole, Humbatova, Aytaj, Schmidt, Axel, Ur Rehman, Fazal, Naeem, Muhammad, Wolf, Sabrina, Tareen, Abdul Samad, Panezai, Muhammad Anwar, Thiele, Holger ORCID: 0000-0002-0169-998X, Wali, Abdul, Foelster-Holst, Regina, Basit, Sulman ORCID: 0000-0003-4294-6825, Ayub, Muhammad and Betz, Regina C. (2020). Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing. Acta Derm.-Venereol., 100. UPPSALA: ACTA DERMATO-VENEREOLOGICA. ISSN 1651-2057

Hashmi, Jamil A., Fadhli, Fatima, Almatrafi, Ahmed, Afzal, Sibtain, Ramzan, Khushnooda, Thiele, Holger ORCID: 0000-0002-0169-998X, Nuernberg, Peter and Basit, Sulman ORCID: 0000-0003-4294-6825 (2020). Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family. Brain Dev., 42 (8). S. 587 - 594. AMSTERDAM: ELSEVIER. ISSN 1872-7131

This list was generated on Fri Mar 29 00:33:39 2024 CET.