Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families von Mudassir, Behjat Ul, Mudassir, Mujaddid, Williams, Jamal B, Agha, Zehra

Volltext

Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report von Mudassir, Behjat Ul, Agha, Zehra

Volltext

Genetic Heterogeneity in Four Probands Reveals HGSNAT , KDM6B , LMNA and WFS1 Related Neurodevelopmental Disorders von Mudassir, Behjat Ul, Mudassir, Mujaddid, Williams, Jamal B, Agha, Zehra

Volltext

Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders von Mudassir, Behjat Ul, Alotaibi, Mashael Alhumaidi, Kizilbash, Nadeem, Alruwaili, Daliyah, Alruwaili, Anwar, Alenezi, Modhi, Agha, Zehra

Volltext

Exome sequencing identifies three novel candidate genes implicated in intellectual disability von Agha, Zehra, Iqbal, Zafar, Azam, Maleeha, Ayub, Humaira, Vissers, Lisenka E L M, Gilissen, Christian, Ali, Syeda Hafiza Benish, Riaz, Moeen, Veltman, Joris A, Pfundt, Rolph, van Bokhoven, Hans, Qamar, Raheel

Volltext

Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case–control association study reveals... von Ul Mudassir, Behjat, Agha, Zehra

Volltext

Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in IRTTN/I Gene: A Seckel Syndrome Case Repo... von Mudassir, Behjat Ul, Agha, Zehra

Volltext

Novel biallelic frameshift in TRPM7 gene causes Hallermann–Streiff syndrome in a consanguineous family: a case report von Mudassir, Behjat Ul, Agha, Zehra

Volltext

Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families von Behjat Ul Mudassir, Mujaddid Mudassir, Jamal B. Williams, Zehra Agha

Volltext

Contributing risk factors of common psychiatric disorders in the Pakistani population von Hashmi, Aisha Nasir, Qamar, Raheel, Taj, Rizwan, Zubair, Usama Bin, Agha, Zehra, Abbasi, Saddam Akber, Azam, Maleeha

Volltext

A common missense variant rs874881 of PADI4 gene and rheumatoid arthritis: Genetic association study and in-silico analysis von Bashir, Mutshaba, Mateen, Wajeeha, Khurshid, Sadia, Mehmood Malik, Javaid, Agha, Zehra, Khan, Fariha, Ajmal, Muhammad, Ali, Syeda Hafiza Benish

Volltext

Role of 19 SNPs in 10 genes with type 2 diabetes in the Pakistani population von Khan, Netasha, Paterson, Andrew D., Roshandel, Delnaz, Maqbool, Saadia, Fazal, Nosheen, Ali, Liaqat, Khurram, Raja, Ijaz Maqsood, Sundus, Hafiza Benish Ali, Syeda, Khan, Hira, Tariq, Khadija, Bano, Saira, Azam, Aisha, Muslim, Irfan, Maria, Maleeha, Agha, Zehra, Babar, Mujtaba, Khalida Waheed, Nadia, Azam, Maleeha, Qamar, Raheel

Volltext

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features von Ansar, Muhammad, Ullah, Farid, Paracha, Sohail A., Adams, Darius J., Lai, Abbe, Pais, Lynn, Iwaszkiewicz, Justyna, Millan, Francisca, Sarwar, Muhammad T., Agha, Zehra, Shah, Sayyed Fahim, Qaisar, Azhar Ali, Falconnet, Emilie, Zoete, Vincent, Ranza, Emmanuelle, Makrythanasis, Periklis, Santoni, Federico A., Ahmed, Jawad, Katsanis, Nicholas, Walsh, Christopher, Davis, Erica E., Antonarakis, Stylianos E.

Volltext

TH11. AUTISM SPECTRUM DISORDER TRIOS FROM CONSANGUINEOUS POPULATIONS ARE ENRICHED FOR RARE BIALLELIC VARIANTS von Harripaul, Ricardo, Rabia, Ansa, Vasli, Nasim, Mikhailov, Anna, Rodrigues, Ashlyn, Muhammad, Tahir, Madanogopal, Thulasi, Hashmi, Aisha, Tran, Clinton, Mahmood, Saqib, Heidari, Abolfazl, Bozorgmehr, Bita, Agha, Zehra, Ayub, Muhammad, Vincent, John

Volltext

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder von Mirzaa, Ghayda M., Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M., Dries, Annika M., Rowe, Leah J., Tsai, Anne C.H., Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.

Volltext

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet–Biedl syndrome in a Pakistani family von Agha, Zehra, Iqbal, Zafar, Azam, Maleeha, Hoefsloot, Lies H., van Bokhoven, Hans, Qamar, Raheel

Volltext

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1 von Agha, Zehra, Iqbal, Zafar, Azam, Maleeha, Siddique, Maimoona, Willemsen, Marjolein H., Kleefstra, Tjitske, Zweier, Christiane, de Leeuw, Nicole, Qamar, Raheel, van Bokhoven, Hans

Volltext

Novel biallelic frameshift in TRPM7 gene causes Hallermann-Streiff syndrome in a consanguineous family: a case report von Mudassir, Behjat Ul, Agha, Zehra

Volltext

Assessment of the perceptions of health among medical students von Shaheen Akbar Agha, Muhammad Akbar Agha, Ghazala Usman, Zehra Agha

Volltext

Assessment of the perceptions of health among medical students von Agha, Shaheen Akbar, Agha, Muhammad Akbar, Usman, Ghazala, Agha, Zehra

Volltext