DefinePK

DefinePK hosts the largest index of Pakistani journals, research articles, news headlines, and videos. It also offers chapter-level book search.

Select Collection
Categories
Religious and Islamic Studies Social Sciences Humanities and Arts Natural and Physical Sciences Medical and Health Sciences Engineering and Technology Agricultural and Environmental Sciences Business, Economics, and Management Sciences Law and Political Sciences Language, Literature, and Linguistics

11 Papers found for "Clinical Genetics (11)"

Spectrum of Inherited Metabolic Disorders with Neurological Manifestations in Children Presenting to Neurology Department

JAVERIA RAZA ALVI, MUHAMMAD ATHAR KHALILY, SAHER GUL AHDI, TIPU SULTAN, WASEEM UR RAHMAN, ZIA UR REHMAN

Pakistan Pediatric Journal | 2023

Read Paper
GENOTYPE-PHENOTYPE CORRELATIONS IN EPILEPTIC ENCEPHALOPATHY SYNDROMES IN LESS THAN 2 YEARS OF AGE: A SINGLE CENTRE EXPERIENCE

Henry Houlden, Joveria Raza Alvi, Muhammad Azeem Ashfaq, Saher Gul Ahdi, Stephanie Efthymiou, Tipu Sultan, Waseem ur Rahman, Zia ur Rehman

Pakistan Pediatric Journal | 2022

Read Paper
Cytopenias in children: clinical, hematological and etiological profile

Fauzia Zafar, Javaria Rasheed, Muhammad Khalid, Rabia Bashir, Saba Urooj

Isra Medical Journal | 2019

Read Paper
WERDNIG HOFFMAN IN HETEROZYGOTE TWINS

MAHDI JAHANGIR- BLOURCHIAN, Maryam Alizadeh, Masomeh Fasihi, MEHRSIMA ABDOLLAHZADEH, MOHAMMAD HOSSEIN GHORBANI

The Professional Medical Journal (TPMJ) | 2012

Read Paper
Endocrine complications in thalassemic children at a tertiary childcare hospital of South Punjab, Pakistan.

Asim Khurshid, Sana Waqar, Syed Zagham Ali, Waqas Imran Khan

The Professional Medical Journal (TPMJ) | 2021

Read Paper
Nestroft Validity for Screening of Extended Families of Thalassemia Patients

MOHAMMED ADIL AKHTER, TAZEEN MAJEED, UJALA NAYYAR, UMAR FAROOQ DAR

Journal of Fatima Jinnah Medical University (JFJMU) | 2015

Read Paper
Association of Consanguinity with Abnormalities in the Descendants

Ammara Rafique, Hajra Naz

Journal of Bahria University Medical and Dental College (JBUMDC) | 2023

Read Paper
LEIGH DISEASE � A RARE MITOCHONDRIAL NEUROMETABOLIC DISORDER: Leigh Disease

Asim Rahim, Lutafullah, Mehboob Sultan, Mudassar Iqbal, Muhammad Afzal, Shaukat Mahmood Qureshi, Shoaib Ali

Pakistan Armed Forces Medical Journal (PAFMJ) | 2008

Read Paper
FEASIBILITY OF SHORT TANDEM REPEATS (STR) ANALYSIS FOR CARRIER DETECTION AND PRENATAL DIAGNOSIS IN FAMILIES WITH DUCHENNE MUSCULAR DYSTROPHY (DMD)

Abdus Sattar, Farooq Ahmad Khan, Rizwan Hashim, Sajida Shaheen, Suhaib Ahmad

Pakistan Armed Forces Medical Journal (PAFMJ) | 2011

Read Paper
SIDEROBLASTIC ANAEMIA–A HITHERTO UNRCCGNIZED CAUSE OF UNEXPLAINED ANAEMIA

Aniqa Bano, Farah Bano, Kamran Nazir Ahmad, Khurshid Ali Bangash, Shawana Kamran, Tariq Sarfraz

Pakistan Armed Forces Medical Journal (PAFMJ) | 2018

Read Paper