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Aiman Shawli

Showing results (1-10 of 13) with videos related to

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BMJ Case Reports|May 10, 2019
Lethal multiple pterygium syndromeFarzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli
Cureus|September 18, 2023
Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature ReviewFarzeen Mohtisham, Maram Al Thaqafi, Aiman Shawli, et al.
Cureus|June 6, 2022
Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature ReviewJubara Alallah, Sohaib Habhab, Farzeen Mohtisham, et al.
BMJ Case Reports|June 2, 2019
Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the <i>PCNT</i> geneHamdan Alrajhi, Jubara Alallah, Aiman Shawli, et al.
Clinical Genetics|December 9, 2025
DBR1 Gene Mutation: Pathogenicity in the Homozygous State and Its Phenotype in Two SiblingsAiman Shawli, Hanan Aljedani, Jomanah Mazi, et al.
Pediatric Reports|August 3, 2018
A case of atypical systemic primary carnitine deficiency in Saudi ArabiaAbdulrahman Alghamdi, Hani Almalki, Aiman Shawli, et al.
Cureus|January 17, 2020
A Mutation in Cathepsin C Gene Causing Papillon-Lefèvre Syndrome in a Saudi Patient: A Case ReportAiman Shawli, Yazan Almaghrabi, Abdullah S AlQuhaibi, et al.
Cureus|January 3, 2022
Rhabdomyoma and Hypoplastic Left Heart Syndrome - Case Report of a Very Rare CombinationRahaf Waggass, Hanan S Bin Yahib, Hosam H Bin Seddeq, et al.
Frontiers in Genetics|November 24, 2025
A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature reviewHanan Aljedani, Yousef Faden, Manar Alghamdi, et al.
International Journal of Pediatrics & Adolescent Medicine|June 6, 2022
Stüve-Wiedemann syndrome with a novel mutation in a Saudi infantJubara Alallah, Loujen Omar Alamoudi, Reham Mohmmed Makki, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
BMJ Case Reports|May 10, 2019
Lethal multiple pterygium syndromeFarzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli
Cureus|September 18, 2023
Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature ReviewFarzeen Mohtisham, Maram Al Thaqafi, Aiman Shawli, et al.
Cureus|June 6, 2022
Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature ReviewJubara Alallah, Sohaib Habhab, Farzeen Mohtisham, et al.
BMJ Case Reports|June 2, 2019
Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the <i>PCNT</i> geneHamdan Alrajhi, Jubara Alallah, Aiman Shawli, et al.
Clinical Genetics|December 9, 2025
DBR1 Gene Mutation: Pathogenicity in the Homozygous State and Its Phenotype in Two SiblingsAiman Shawli, Hanan Aljedani, Jomanah Mazi, et al.
Pediatric Reports|August 3, 2018
A case of atypical systemic primary carnitine deficiency in Saudi ArabiaAbdulrahman Alghamdi, Hani Almalki, Aiman Shawli, et al.
Cureus|January 17, 2020
A Mutation in Cathepsin C Gene Causing Papillon-Lefèvre Syndrome in a Saudi Patient: A Case ReportAiman Shawli, Yazan Almaghrabi, Abdullah S AlQuhaibi, et al.
Cureus|January 3, 2022
Rhabdomyoma and Hypoplastic Left Heart Syndrome - Case Report of a Very Rare CombinationRahaf Waggass, Hanan S Bin Yahib, Hosam H Bin Seddeq, et al.
Frontiers in Genetics|November 24, 2025
A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature reviewHanan Aljedani, Yousef Faden, Manar Alghamdi, et al.
International Journal of Pediatrics & Adolescent Medicine|June 6, 2022
Stüve-Wiedemann syndrome with a novel mutation in a Saudi infantJubara Alallah, Loujen Omar Alamoudi, Reham Mohmmed Makki, et al.
Pageof 2