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Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families by Ambrin Fatima, Uzma Abdullah, Muhammad Farooq, Yuan Mang, Mana M. Mehrjouy, Maria Asif, Zafar Ali, Niels Tommerup, Shahid M. Baig
Published 2021-11-01
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Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability by Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid M. Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Published 2022-12-01
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Biallelic <i>SYNE2</i> Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism by Natalie Young, Maria Asif, Matthew Jackson, Daniel Martín Fernández-Mayoralas, Mar Jimenez de la Peña, Beatriz Calleja-Pérez, Sara Álvarez, Eve Hunter-Featherstone, Angelika A. Noegel, Wolfgang Höhne, Peter Nürnberg, Boguslaw Obara, Muhammad Sajid Hussain, Iakowos Karakesisoglou, Alberto Fernández-Jaén
Published 2021-08-01
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Modifier Genes in Microcephaly: A Report on <i>WDR62</i>, <i>CEP63</i>, <i>RAD50</i> and <i>PCNT</i> Variants Exacerbating Disease Caused by Biallelic Mutations of <i>ASPM</i> and... by Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi, Hammad Yousaf, Zafar Ali, Ambrin Fatima, Emrah Kaygusuz, Ayaz Khan, Muhammad Jameel, Sheraz Khan, Muhammad Tariq, Iram Anjum, Janine Altmüller, Holger Thiele, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Published 2021-05-01
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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan by Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Emrah Kaygusuz, Muhammad Zakaria, Shafaq Ramzan, Saif ul Haque, Asif Mir, Iram Anjum, Mehak Fiaz, Zafar Ali, Muhammad Tariq, Neelam Saba, Wajid Hussain, Birgit Budde, Saba Irshad, Angelika Anna Noegel, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Published 2020-09-01
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