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Pakistan Journal of Medical Sciences|August 17, 2017
Clinical and laboratory profile of children with Cystic Fibrosis: Experience of a tertiary care center in PakistanDanish Abdul Aziz, Abdul Gaffar Billoo, Ahad Qureshi, et al.Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|July 7, 2014
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutationMichael C Brodsky, Kadriye Erkan Turan, Cheryl L Khanna, et al.American Journal of Medical Genetics. Part A|November 12, 2013
Similarity of geleophysic dysplasia and Weill-Marchesani syndromeAaina Kochhar, Salman Kirmani, Frank Cetta, et al.Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|January 23, 2013
"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type IIGenie M Bang, Salman Kirmani, Alice Patton, et al.Annals of Medicine and Surgery (2012)|February 1, 2021
Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literatureSibtain Ahmed, Aahan Arif, Saadia Abbas, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|January 19, 2013
Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infantAsma Javed, Jennifer M Leonard, Carl Cramer, et al.The Pediatric Infectious Disease Journal|June 2, 2009
Treatment-resistant meningitis leading to the diagnosis of Currarino syndrome: a case reportAutumn S Kiefer, Priyanka Gupta, Salman Kirmani, et al.Journal of the College of Physicians and Surgeons--Pakistan : JCPSP|March 7, 2025
Establishing a Newborn Screening Programme: A Success Story from a Low-Resource SettingHafsa Majid, Lena Jafri, Sibtain Ahmed, et al.Journal of Genetic Counseling|January 31, 2022
Challenges and opportunities in the establishment of a hereditary breast cancer clinic at an academic medical center in a low-middle income countryLubaina Ehsan, Muhammad Talha Waheed, Fizza Akbar, et al.JMIR Research Protocols|June 3, 2021
Assessing Health-Related Quality of Life, Morbidity, and Survival Status for Individuals With Down Syndrome in Pakistan (DS-Pak): Protocol for a Web-Based Collaborative RegistryAyat Siddiqui, Laila Akbar Ladak, Abdul Momin Kazi, et al.Pageof 9