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Journal Article
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
Waseem, Syeda Seema, Moawia, Abubakar, Budde, Birgit, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Khan, Ayaz, Ali, Zafar
ORCID: 0000-0002-2389-3337, Khan, Sheraz, Iqbal, Maria, Malik, Naveed Altaf
ORCID: 0000-0002-7392-9449, ul Haque, Saif, Altmueller, Janine, Thiele, Holger, Hussain, Muhammad Sajid, Cirak, Sebahattin, Baig, Shahid Mahmood and Nuernberg, Peter
(2021).
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
Genes, 12 (10).
BASEL:
MDPI.
ISSN 2073-4425
Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Hoehne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam
ORCID: 0000-0001-5962-2101, Yousaf, Hammad, Ali, Zafar
ORCID: 0000-0002-2389-3337, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad
ORCID: 0000-0002-5334-403X, Anjum, Iram, Altmueller, Janine, Thiele, Holger, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid
(2021).
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Genes, 12 (5).
BASEL:
MDPI.
ISSN 2073-4425
Ramzan, Shafaq, Tennstedt, Stephanie ORCID: 0000-0001-9063-3087, Tariq, Muhammad
ORCID: 0000-0002-5334-403X, Khan, Sheraz
ORCID: 0000-0003-3207-4074, Ul Ayan, Hafiza Noor, Ali, Aamir, Munz, Matthias, Thiele, Holger, Korejo, Asad Aslam, Mughal, Abdul Razzaq, Jamal, Syed Zahid, Nuernberg, Peter, Baig, Shahid Mahmood, Erdmann, Jeanette
ORCID: 0000-0002-4486-6231 and Ahmad, Ilyas
(2021).
A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.
Genes, 12 (8).
BASEL:
MDPI.
ISSN 2073-4425
Sukumaran, Salil K., Stumpf, Maria, Salamon, Sarah, Ahmad, Ilyas, Bhattacharya, Kurchi, Fischer, Sarah ORCID: 0000-0001-6227-3950, Mueller, Rolf, Altmueller, Janine, Budde, Birgit, Thiele, Holger, Tariq, Muhammad
ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf, Nuernberg, Peter, Baig, Shahid Mahmood, Hussain, Muhammad Sajid
ORCID: 0000-0002-1353-8809 and Noegel, Angelika A.
(2017).
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Mol. Genet. Genomics, 292 (2).
S. 365 - 384.
HEIDELBERG:
SPRINGER HEIDELBERG.
ISSN 1617-4623
Hussain, Muhammad S., Baig, Shahid M., Neumann, Sascha, Peche, Vivek S., Szczepanski, Sandra, Nuernberg, Gudrun, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Jameel, Muhammad, Khan, Tahir N., Fatima, Ambrin, Malik, Naveed A., Ahmad, Ilyas, Altmueller, Janine, Frommolt, Peter
ORCID: 0000-0002-1966-8014, Thiele, Holger, Hoehne, Wolfgang, Yigit, Goekhan, Wollnik, Bernd, Neubauer, Bernd A., Nuernberg, Peter and Noegel, Angelika A.
(2013).
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hum. Mol. Genet., 22 (25).
S. 5199 - 5215.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
Zulfiqar, Shumaila ORCID: 0000-0002-3512-5343, Moawia, Abubakar, Waseem, Syeda Seema, Ali, Zafar
ORCID: 0000-0002-2389-3337, Ramzan, Shafaq, Anjum, Iram, Baig, Shahid Mahmood and Tariq, Muhammad
ORCID: 0000-0002-5334-403X
.
Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.
Int. J. Neurosci..
ABINGDON:
TAYLOR & FRANCIS LTD.
ISSN 1563-5279