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Sanam Faryal
Sanam Faryal
National Institute for Biotechnology and Genetic Engineering
Genetics
Biology
Gene
Mutation
Frameshift mutation
4
Papers
19
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A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and Brachydactyly Type C+ in a 6 generations family: Clinical report and mini review.
2021
European Journal of Medical Genetics
Sanam Faryal
Muhammad A. Farooq
Uzma Abdullah
Zafar Ali
Saadia Maryam Saadi
Farid Ullah
Kamal Khan
Yasra Sarwar
Muhammad Sher
Anuja Arora Chopra
NielsTommerup
Shahid Mahmood Baig
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Citations (1)
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family
2019
International Journal of Neuroscience
Muhammad Sher
Muhammad A. Farooq
Uzma Abdullah
Zafar Ali
Sanam Faryal
Mohammad Zakaria
Farid Ullah
Hassan Bukhari
Rikke S. Møller
Niels Tommerup
Shahid Mahmood Baig
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A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
2017
European Journal of Medical Genetics
Uzma Abdullah
Muhammad Farooq
Yuan Mang
Syeda Marriam Bakhtiar
Ambrin Fatima
Lars Kai Hansen
Klaus W. Kjaer
Lars Allan Larsen
Sanam Faryal
Niels Tommerup
Shahid Mahmood Baig
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Citations (4)
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers
2017
European Journal of Human Genetics
Joakim Klar
Zafar Ali
Muhammad Farooq
Kamal Khan
Johan Wikström
Maria Iqbal
Shumaila Zulfiqar
Sanam Faryal
Shahid Mahmood Baig
Niklas Dahl
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Citations (14)
1