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Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.
Published in:
Journal of Genetics, 2021, v. 100, n. 2, p. 1, doi. 10.1007/s12041-021-01310-5
By:
- GUL, HADIA;
- SHAH, ABDUL HALEEM;
- HARRIPAUL, RICARDO;
- ABBASI, SUMRA WAJID;
- FAHEEM, MUHAMMAD;
- ZUBAIR, MUHAMMAD;
- MUZAMMAL, MUHAMMAD;
- KHAN, SAADULLAH;
- VINCENT, JOHN B.;
- KHAN, MUZAMMIL AHMAD
Publication type:
Article
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.
Published in:
Journal of Genetics, 2017, v. 96, n. 2, p. 383, doi. 10.1007/s12041-017-0759-x
By:
- KHAN, MUZAMMIL;
- WINDPASSINGER, CHRISTIAN;
- ALI, MUHAMMAD;
- ZUBAIR, MUHAMMAD;
- GUL, HADIA;
- ABBAS, SAFDAR;
- KHAN, SAADULLAH;
- BADAR, MUHAMMAD;
- MOHAMMAD, RAMZI;
- NAWAZ, ZAFAR
Publication type:
Article
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Published in:
Scientific Reports, 2017, p. 44185, doi. 10.1038/srep44185
By:
- Shahzad, Mohsin;
- Yousaf, Sairah;
- Waryah, Yar M.;
- Gul, Hadia;
- Kausar, Tasleem;
- Tariq, Nabeela;
- Mahmood, Umair;
- Ali, Muhammad;
- Khan, Muzammil A.;
- Waryah, Ali M.;
- Shaikh, Rehan S.;
- Riazuddin, Saima;
- Ahmed, Zubair M.
Publication type:
Article
Ethnoveterinary uses of forage plants for domesticated ruminants in Malakand agency, Pakistan.
Published in:
Journal of Animal Physiology & Animal Nutrition, 2024, v. 108, n. 1, p. 36, doi. 10.1111/jpn.13862
By:
- Khan, Raees;
- Nedelcheva, Anely;
- Abidin, Sheikh Zain Ul;
- Bhatti, Muhammad Zeeshan;
- Khan, Shujaul Mulk;
- Ullah, Asad;
- Saeed, Rida Fatima;
- Aziz, Abida;
- Gul, Hadia;
- Dogan, Yunus
Publication type:
Article
Mutation Analysis of a Pakistani Oculocutaneous Albinism Family Identifies a Novel Splice Site Defect in OCA2 Gene.
Published in:
Pakistan Journal of Zoology, 2022, v. 54, n. 3, p. 1215, doi. 10.17582/journal.pjz/20200501060515
By:
- Gul, Hadia;
- Shah, Abdul Haleem;
- Harripaul, Ricardo;
- Mikhailov, Anna;
- Khan, Ejaz Ullah;
- Shah, Wasim;
- Ahmad, Nisar;
- Vincent, John B.;
- Khan, Muzammil Ahmad
Publication type:
Article
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.
Published in:
Journal of the Pakistan Medical Association, 2017, v. 67, n. 5, p. 790
By:
- Gul, Hadia;
- Ali, Muhammad Zeeshan;
- Khan, Ejazullah;
- Zubair, Muhammad;
- Badar, Muhammad;
- Khan, Saadullah;
- Shah, Abdul Haleem;
- Khan, Muzammil Ahmad
Publication type:
Article
Response of Maize (Zea mays L.) to Parthenium hysterophorus Mixed Soil Under Climatic Condition of Dera Ismail Khan, KP, Pakistan.
Published in:
Pakistan Journal of Weed Science Research, 2024, v. 30, n. 1, p. 1, doi. 10.17582/journal.PJWSR/2024/30.1.01.06
By:
- Hussain, Iqtidar;
- Ullah Qaisrani, Muhammad Inam;
- Khakwani, Abdul Aziz;
- Hasnian, Zuhair;
- Saddozai, Umar Khitab;
- Naeem, Muhammad;
- Gul, Hadia;
- Abbass, Moneeza
Publication type:
Article
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Published in:
Annals of Human Genetics, 2019, v. 83, n. 4, p. 278, doi. 10.1111/ahg.12307
By:
- Gul, Hadia;
- Shah, Abdul Haleem;
- Harripaul, Ricardo;
- Mikhailov, Anna;
- Prajapati, Kamalben;
- Khan, Ejazullah;
- Ullah, Farman;
- Zubair, Muhammad;
- Ali, Muhammad Zeeshan;
- Shah, Ayesha Haleem;
- Salman, Said;
- Khan, Saadullah;
- Vincent, John B.;
- Khan, Muzammil Ahmad
Publication type:
Article

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