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2022
Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Honing, Stefan, Baig, Shahid Mahmood, Nurnberg, Peter and Hussain, Muhammad Sajid (2022). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome (vol 100, pg 486, 2021). Clin. Genet., 101 (2). S. 272 - 273. HOBOKEN: WILEY. ISSN 1399-0004
2021
Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad 
ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid
(2021).
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clin. Genet., 100 (4).
S. 486 - 489.
HOBOKEN:
WILEY.
ISSN 1399-0004