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1

Detection of common mutations in the GALT gene through ARMS

Umair Mahmood, Muhammad Imran, Salma Iqbal Naik, Huma Arshad Cheema, Anjum Saeed, Muhammad Arshad, Saqib Mahmood

Journal:

Year:

2012

Language:

english

File:

PDF, 250 KB

english, 2012

2

[IEEE 2013 2nd National Conference on Information Assurance (NCIA) - Rawalpindi, Pakistan (2013.12.11-2013.12.12)] 2013 2nd National Conference on Information Assurance (NCIA) - Information Security Management in academic institutes of Pakistan

Rehman, Huma, Masood, Ashraf, Cheema, Ahmad Raza

Year:

2013

Language:

english

File:

PDF, 1.19 MB

english, 2013

3

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation

Ijaz, Sadaqat, Zahoor, Muhammad Yasir, Imran, Muhammad, Afzal, Sibtain, Bhinder, Munir A., Ullah, Ihsan, Cheema, Huma Arshad, Ramzan, Khushnooda, Shehzad, Wasim

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.07 MB

english, 2015

4

Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families

Ijaz, Sadaqat, Zahoor, Muhammad Yasir, Imran, Muhammad, Ramzan, Khushnooda, Bhinder, Munir Ahmad, Shakeel, Hussain, Iqbal, Muhammad, Aslam, Asim, Shehzad, Wasim, Cheema, Huma Arshad, Rehman, Habib

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.07 MB

english, 2017

5

Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis

Zubaida, Bibi, Hashmi, Muhammad Almas, Cheema, Huma Arshad, Naeem, Muhammad

Journal:

Journal of Genetics

Year:

2018

Language:

english

File:

PDF, 682 KB

english, 2018

6

Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias

Zubaida, Bibi, Cheema, Huma Arshad, Hashmi, Muhammad Almas, Naeem, Muhammad

Journal:

Clinical Biochemistry

Year:

2019

Language:

english

File:

PDF, 1.14 MB

english, 2019

7

Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1

Zahoor, Muhammad Yasir, Cheema, Huma Arshad, Ijaz, Sadaqat, Anjum, Muhammad Nadeem, Ramzan, Khushnooda, Bhinder, Munir Ahmad

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2019

Language:

english

File:

PDF, 445 KB

english, 2019

8

Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected Pakistani Cohorts

Yasir Zahoor, Muhammad, Cheema, Huma Arshad, Ijaz, Sadaqat, Fayyaz, Zafar

Journal:

Fetal and Pediatric Pathology

Year:

2019

Language:

english

File:

PDF, 1.33 MB

english, 2019

9

Unusual case of Juvenile Tay-Sachs disease

Cheema, Huma A, Waheed, Nadia, Saeed, Anjum

Journal:

BMJ Case Reports

Year:

2019

Language:

english

File:

PDF, 140 KB

english, 2019

10

Unusual case of Juvenile Tay-Sachs disease

Cheema, Huma A, Waheed, Nadia, Saeed, Anjum

Journal:

BMJ Case Reports

Year:

2019

File:

PDF, 140 KB

2019

11

OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea

Gao, Emily, Cheema, Huma, Waheed, Nadia, Mushtaq, Iqra, Erden, Nihan, Nelson‐Williams, Carol, Jain, Dhanpat, Soroka, Carol J., Boyer, James L., Khalil, Youssef, Clayton, Peter T, Mistry, Pramod K., Li

Journal:

Year:

2019

File:

PDF, 4.35 MB

2019

12

Rare presentation of haemobilia and Loeffler’s pneumonia in a child by ascaris lumbricoides

Cheema, Huma Arshad, Waheed, Nadia, Saeed, Anjum

Journal:

BMJ Case Reports

Year:

2019

Language:

english

File:

PDF, 475 KB

english, 2019

13

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families

Ullah, Aman, Zubaida, Bibi, Cheema, Huma Arshad, Naeem, Muhammad

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2020

File:

PDF, 1.43 MB

2020

14

Mutation spectrum of glucocerebrosidase gene in Pakistani patients with Gaucher disease

Cheema, Huma A., Anjum, Muhammad N., Saeed, Anjum, Zahoor, Muhammad Yasir, Waheed, Nadia

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 316 KB

2020

15

Phenotypic diversity of Niemann-Pick disease type C in Pakistani children

Cheema, Huma A., Saeed, Anjum, Anjum, Muhammad N., Waheed, Nadia

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 316 KB

2020

16

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Cheema, Huma, Bertoli-Avella, Aida M., Skrahina, Volha, Anjum, Muhammad Nadeem, Waheed, Nadia, Saeed, Anjum, Beetz, Christian, Perez-Lopez, Jordi, Rocha, Maria Eugenia, Alawbathani, Salem, Pereira, Ca

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 2.53 MB

2020

17

The sclerosing Sertoli cell tumor of the testis is an extremely rare entity

Gomha, Faaz Salah, Bhatti, Kamran Hassan, Yousif, Ayad A., Smain, Ayamn Mohammed, Sohail, Nadeem, Abdelrahman, Khalid Mohammed, Arshad, Huma, Shaat, Ahmed H. A., Bhatti, Wasim Sarwar, Cheema, Naeem Ah

Journal:

Therapeutic Advances in Urology

Year:

2020

File:

PDF, 965 KB

2020