Get started
Author

Aiman M Shawli

Adult genomic medicine: lessons from a multisite study of 2700 patients
2025 · Khadijah Bakur, Halima Hamid, et al. · Genome Medicine · 8
PDF
Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review
2022 · Jubara Alallah, Sohaib Habhab, et al. · Cureus · 8
PDF
Lethal multiple pterygium syndrome
2019 · Farzeen Shuaib Mohtisham, Adel Sallam, et al. · BMJ Case Reports · 8
Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant
2021 · Jubara Alallah, Loujen Omar Alamoudi, et al. · International Journal of Pediatrics and Adolescent Medicine · 7
PDF
Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene
2019 · Hamdan Alrajhi, Jubara Alallah, et al. · BMJ Case Reports · 7
Ectodermal Dysplasia: A Case Report
2022 · Hussein A Alshegifi, Abdulmajeed M Alamoudi, et al. · Cureus · 6
PDF
The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016
2020 · Elaf M Abduljawad, Ahad AlHarthi, et al. · Cureus · 6
PDF
A Mutation in Cathepsin C Gene Causing Papillon-Lefèvre Syndrome in a Saudi Patient: A Case Report
2020 · Aiman Shawli, Yazan Almaghrabi, et al. · Cureus · 5
PDF
Rhabdomyoma and Hypoplastic Left Heart Syndrome - Case Report of a Very Rare Combination
2021 · Rahaf Waggass, Hanan S Bin Yahib, et al. · Cureus · 4
PDF
Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient
2022 · Mansour Al Qurashi, Ahmed Mustafa, et al. · BMC Medical Genomics · 3
PDF
One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review
2020 · Saleem A Alsaedi, Oday Qurashi, et al. · Cureus · 3
PDF
A case report of Crisponi/cold-induced sweating syndrome 1 in a Saudi family
2018 · Jubara Alallah, Aiman Shawli, et al. · Journal of Clinical Neonatology · 3
DBR1 Gene Mutation: Pathogenicity in the Homozygous State and Its Phenotype in Two Siblings
2025 · Aiman Shawli, Hanan Aljedani, et al. · Clinical Genetics · 2
PDF
A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report
2021 · Aiman M Shawli, Abdulaziz T Nazer, et al. · Cureus · 2
PDF
CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report
2025 · Hasan Ghandourah, Batoul A. Basalom, et al. · American Journal of Case Reports · 1
Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report
2023 · Seraj Makkawi, Osama Khojah, et al. · Cureus · 1
PDF
Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review
2023 · Farzeen Mohtisham, Maram Al Thaqafi, et al. · Cureus · 1
PDF
A Case of Atypical Systemic Primary Carnitine Deficiency in Saudi Arabia
2018 · Abdulrahman Alghamdi, Hani Almalki, et al. · Pediatric Reports · 1
PDF
Woodhouse-Sakati syndrome presenting with progressive dystonia and white matter disease: a case report and literature review
2026 · Seraj Makkawi, Reema Abualnaja, et al. · BMC Neurology
A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review
2025 · Hanan Aljedani, Yousef Faden, et al. · Frontiers in Genetics
PDF
De Novo Deletion in the 12q24.23q24.31 Chromosomal Region Causing a Neurodevelopmental Syndrome in a Female Saudi Patient: A Case Report
2025 · Lina Bazeeb, Hanan A Aljedani, et al. · Cureus
PDF
A Rare Cause of Fracture in a Preterm Infant
2024 · Sallam Adel, Mohtisham Farzeen, et al. · NeoReviews
Validation of Gene Causality for Neurological Disorders
2018 · Aida M. Bertoli‐Avella, Fahd Al‐Mulla, et al.
Works count: 23
Citation count: 76
H-index: 6
I10-index:
Year
Topic
Type