Biallelic variants in four genes underlying recessive osteogenesis imperfecta von Hayat, Amir, Hussain, Shabir, Bilal, Muhammad, Kausar, Mehran, Almuzzaini, Bader, Abbas, Safdar, Tanveer, Adeena, Khan, Amjad, Siddiqi, Saima, Foo, Jia Nee, Ahmad, Farooq, Khan, Feroz, Khan, Bushra, Anees, Mariam, Mäkitie, Outi, Alfadhel, Majid, Ahmad, Wasim, Umair, Muhammad

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Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families von Shafique, Sobia, Siddiqi, Saima, Schraders, Margit, Oostrik, Jaap, Ayub, Humaira, Bilal, Ammad, Ajmal, Muhammad, Seco, Celia Zazo, Strom, Tim M, Mansoor, Atika, Mazhar, Kehkashan, Shah, Syed Tahir A, Hussain, Alamdar, Azam, Maleeha, Kremer, Hannie, Qamar, Raheel

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Antecedent infections, recent developments and future directions in Guillain-Barré syndrome von Iqbal, Rashid, Asad, Muhammad Javaid, Mahmood, Raja Tahir, Shah, Muhammad Basir, Nawaz, Zahida, Siddiqi, Saima

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Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome von Siddiqi, Saima, Siddiq, Saadat, Mansoor, Atika, Oostrik, Jaap, Ahmad, Nafees, Kazmi, Syed Ali Raza, Kremer, Hannie, Qamar, Raheel, Schraders, Margit

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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds von Kausar, Mehran, Ain, Noor Ul, Hayat, Farzana, Fatima, Hunain, Azim, Saad, Ullah, Hazrat, Mushtaq, Murva, Khalid, Sumbal, Hussain, Shahid, Naz, Sadaf, Janjua, Jamal, Amjad, Saad Bin, Baig, Ruqia Mehmood, Makitie, Outi, Qamar, Raheel, Ikegawa, Shiro, Gen, Nishimura, Khor, Chiea Chuen, Foo, Jia Nee, Siddiqi, Saima

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Study of Guillain-Barre syndrome etiology in Pakistani patients von Iqbal, Rashid, Asad, Muhammad Javaid, Siddiqi, Saima, Mahmood, Raja Tahir, Shah, Muhamamd Basir, Zainab, Tayyaba

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A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias von Siddiqi, Saima, Foo, Jia Nee, Vu, Anthony, Azim, Saad, Silver, David L, Mansoor, Atika, Tay, Stacey Kiat Hong, Abbasi, Sumiya, Hashmi, Asraf Hussain, Janjua, Jamal, Khalid, Sumbal, Tai, E Shyong, Yeo, Gene W, Khor, Chiea Chuen

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Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease von Ravindran, Ethiraj, Ullah, Noor, Mani, Shyamala, Chew, Elaine Guo Yan, Tandiono, Moses, Foo, Jia Nee, Khor, Chiea Chuen, Kaindl, Angela M., Siddiqi, Saima

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Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta von Kausar, Mehran, Siddiqi, Saima, Yaqoob, Muhammad, Mansoor, Sajid, Makitie, Outi, Mir, Asif, Khor, Chiea Chuen, Foo, Jia Nee, Anees, Mariam

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A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family von Siddiqi, Saima, Ismail, Muhammad, Oostrik, Jaap, Munawar, Saba, Mansoor, Atika, Kremer, Hannie, Qamar, Raheel, Schraders, Margit

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A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family von Kausar, Mehran, Chew, Elaine Guo Yan, Ullah, Hazrat, Anees, Mariam, Khor, Chiea Chuen, Foo, Jia Nee, Makitie, Outi, Siddiqi, Saima

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Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta von Kausar, Mehran, Siddiqi, Saima, Yaqoob, Muhammad, Mansoor, Sajid, Makitie, Outi, Mir, Asif, Khor, Chiea Chuen, Foo, Jia Nee, Anees, Mariam

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Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family von Ajmal, Muhammad, Mir, Asif, Wahid, Sughra, Khor, Chiea Chuen, Foo, Jia Nee, Siddiqi, Saima, Kauser, Mehran, Malik, Salman Akbar, Nasir, Muhammad

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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy von Zazo Seco, Celia, Castells-Nobau, Anna, Joo, Seol-Hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M, Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P, Khor, Chiea Chuen, Göpfert, Martin C, Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima

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Population-level differences in revascularization treatment and outcomes among various United States subpopulations von Graham, Garth, Xiao, Yang-Yu Karen, Rappoport, Dan, Siddiqi, Saima

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Direct‐acting antiviral agents in the treatment of chronic hepatitis C—Real‐life experience from clinical practices in Pakistan von Mushtaq, Saima, Mansoor, Atika, Umar, Muhammad, Khan, Amjad, Siddiqi, Saima, Manzoor, Sobia

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Study of PKRBD in HCV genotype 3a infected patients in response to interferon therapy in Pakistani population von Mansoor, Atika, Ali, Lubna, Sabah, Noor-ul, Hashmi, Asraf Hussain, Khan, Mohammad Haroon, Kazmi, Syed Ali Raza, Ahmad, Nafees, Siddiqi, Saima, Khan, Khalid Mehmood

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Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient von Siddiqi, Saima, Ain, Noor ul, Kauser, Mehran, Mukhtar, Zahra, Ansar, Muhammad, Umair, Muhammad

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CYP2D64 null allele frequency in sixteen Pakistani ethnic groups von Ullah, Anwar, Riaz, Sana, Siddiqi, Saima, Mazhar, Kehkashan, Mansoor, Atika

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REPORT - CYP2D64 null allele frequency in sixteen Pakistani ethnic groups von Ullah, Anwar, Riaz, Sana, Siddiqi, Saima, Mazhar, Kehkashan, Mansoor, Atika

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