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25 Papers found for "Genetic Disorders (25)"

HPLC in Characterization of Hemoglobin Profile in Thalassemia Syndrome and Hemoglobinopathies: An Experience in Pediatric Tertiary Care Hospital:

Fauzia Aamer, Muniba Shair, Neelam Mazhar, Rabia Ahmad

Annals of Punjab Medical College | 2025

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Jeune's Syndrome: Asphyxiating Thoracic Dysthrophy and Its Late Presentation

BAKHTAWAR SHAHANI, HIRA WASEEM, IFRAH NASR IFRAH, KHATIDJA ALLY

Pakistan Pediatric Journal | 2025

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Difficult Airway Management in Pediatric Anesthesia: Insights from a Mucopolysaccharidosis Case

Madiha Madiha zafar, Umair Khalid

Pakistan Pediatric Journal | 2025

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Pachydermoperiostosis (Touraine-Solente-Gole Syndrome): A Case Report of Primary Hypertrophic Osteoarthropathy

Asif Islam, Fatima Khurshid, Kinza Shahid Randhawa, Memoona Khalood

Journal of the Dow University of Health Sciences (JDUHS) | 2025

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Co-Existence of Darier Disease and Acrokeratosis Verruciformis of HOPF

Sadaf Ahmed Asim, Sania Imtiaz, Sharmeen Nasir

Journal of Pakistan Association of Dermatologists | 2025

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Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in Pakistan

Aysha Habib Khan, Bushra Afroze, Bushra Moiz, Hafsa Majid, Khadija Humayun, Lena Jafri, Natasha Ali, Salman Kirmani, Sibtain Ahmed

Journal of Pakistan Medical Association | 2022

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Skeletal Problems in Sickle Cell Anemia Children

Siraj Nabi, Suresh Kumar, Tauseef Raza, Muhammad Kaleem Khan, Osama Bin Zia, Muhammad Faisal Bashir

Pakistan Journal of Medical and Health Sciences | 2023

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Thalassemia Major Impact on patients’ Families in Northern Punjab, Pakistan

Faiz Ur Rehman, Imran Nazir, Irfan Qadir, M. Mohsin Khan, M. Mustafa Siddiqui, Sadia Zafar, Z A Ch

Pakistan Journal of Medical and Health Sciences | 2015

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Primary Hemochromatosis as Isolated Dilated Cardiomyopathy

Ali Raza Ghani, Kanwal Saba, Mulazim Hussain Bukhari

Pakistan Journal of Medical and Health Sciences | 2014

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Health educational program for family caregivers of children with phenylketonuria’ knowledge and practices

Effat Mohammed Alkarmalawy, Heba Magdy Sharaa, Laila Kamal El Din Effat, Rehab Fouad Abd-Elkodoos

Bioscience Research | 2018

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