Product
Help
Pricing
About
Jobs
Log in
Get started
Author
Add to collection
Yousef H. Housawi
Observed names:
Yousef Housawi,
Yousef Hussain Housawi
Institution:
King Fahad Specialist Hospital
Observed institutions:
King Fahad Specialist Hospital,
Armed Forces Hospital Southern Region
OpenAlex ID:
A5000376533
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population
2021
·
Ali Mir
, Montaha Almudhry
, et al.
·
Human Genetics
·
29
A missense mutation in ANKRD26 segregates with thrombocytopenia
2013
·
Saad A. Al Daama
, Yousef H. Housawi
, et al.
·
Blood
·
27
Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy
2017
·
Patrick M.A. Sleiman
, Michael March
, et al.
·
Human Mutation
·
20
PDF
Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10
2019
·
Ali Mir
, Mohammed Chaudhary
, et al.
·
Brain and Development
·
13
Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 gene mutation
2020
·
Ali Mir
, Safeya Hadab
, et al.
·
Clinical Genetics
·
12
Benign familial and non-familial infantile seizures (Fukuyama-Watanabe–Vigevano syndrome): A study of 14 cases from Saudi Arabia
2009
·
Imad Yassin Saadeldin
, Yousef Housawi
, et al.
·
Brain and Development
·
12
Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing
2017
·
Masood Alqahtani
, Caitlin Edwards
, et al.
·
Familial Cancer
·
11
Adult genomic medicine: lessons from a multisite study of 2700 patients
2025
·
Khadijah Bakur
, Halima Hamid
, et al.
·
Genome Medicine
·
9
PDF
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
2024
·
Mohammed M. Saleh
, Abdulrahim M. Hamhom
, et al.
·
Pediatric Neurology
·
5
Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L
2022
·
Ali Mir
, Fawzia Amer
, et al.
·
Clinical EEG and Neuroscience
·
5
Diagnostic evaluation of patients with epileptic spasms in the era of next‐generation sequencing
2024
·
Ali Mir
, Mohammed AlQahtani
, et al.
·
Epileptic Disorders
·
2
PDF
Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management
2023
·
Ali Mir
, Montaha AlMudhry
, et al.
·
Journal of Pediatric Hematology/Oncology
·
1
Corrigendum to “Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10” [Brain Dev 2019]
2019
·
Ali Mir
, Mohammed Chaudhary
, et al.
·
Brain and Development
·
1
PDF
FGF12 ‐Related Early‐Onset Epileptic Encephalopathies: Therapeutic Response to Sodium Channel Blockers
2026
·
Fatimah Aldurayhim
, Sulman Basit
, et al.
·
American Journal of Medical Genetics Part A
Incomplete Neonatal Diabetes Mellitus With Congenital Hypothyroidism (NDH) Syndrome in Saudi Patients With Known Mutations and Different Manifestations: A Case Report and Brief Literature Review
2020
·
Aida Al Jabri
, Maryam Bawazir
, et al.
Author response for "Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 gene mutation"
2020
·
Ali Mir
, Safeya Hadab
, et al.
·
Publons reviews and discussion
Validation of Gene Causality for Neurological Disorders
2018
·
Aida M. Bertoli‐Avella
, Fahd Al‐Mulla
, et al.
Case Report: Unbalanced Translocation Causing Terminal Deletion of 11q25 to 11qter and Terminal Duplication of 12q24 to 12qter in Addition to 16q24.2 Deletion
2016
·
Omaiyah Al Abdulwahed
, Hani AlKhaldi
, et al.
·
Cancer Genetics
Show more works
View as search
Works count:
18
Citation count:
147
H-index:
8
I10-index:
7
Year
Topic
Type