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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