Khalid Al-Thihli -

عرض الملف الشخصي الخاص بـ Scopus

البريد الإلكترونيalthihlisqu.eduom

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نتاج الأبحاث سنويًا

1 منتهي

A new paradigm for the molecular diagnosis of uncharacterized genetic disorders in the Omani population
Al-Thihli, K. (PI)
٩/١/١٤ → ٥/٣١/١٨
المشروع: MoHERI

57 مقال
2 Chapter
2 رسالة
2 Review article
المزيد
- 1 Abstract
- 1 Comment/debate

Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency
Al-Amrani, F., Ruiter, J. P. N., Doolaard, M., Kumar, A., Ferdinandusse, S. & Al-Thihli, K., فبراير 2025, في: American Journal of Medical Genetics, Part A. 197, 2, e63900.
نتاج البحث: المساهمة في مجلة › مقال › مراجعة النظراء
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency
Al-Thihli, K., Al Hashmi, N., Al Balushi, A., Al-Habsi, A., Al-Ajmi, E., Al-Jasmi, F. & Al-Murshedi, F., يوليو 2024, في: JIMD Reports. 65, 4, صفحة 226-232 7 صفحة
نتاج البحث: المساهمة في مجلة › مقال › مراجعة النظراء

دخول حر

1 اقتباس (Scopus)
Transient response to high-dose niacin therapy in a patient with NAXE deficiency
Al-Amrani, F., Al-Thihli, K., Al-Ajmi, E., Al-Futaisi, A. & Al-Murshedi, F., يوليو 2024, في: JIMD Reports. 65, 4, صفحة 212-225 14 صفحة
نتاج البحث: المساهمة في مجلة › مقال › مراجعة النظراء

دخول حر

2 اقتباسات (Scopus)
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature
Al-Amrani, F., Al-Maawali, A., Al-Thihli, K., Al-Ajmi, E., Ganesh, A. & Al futaisi, A., نوفمبر 1 2023, في: Pediatric Neurology. 148, صفحة 73-80 8 صفحة
نتاج البحث: المساهمة في مجلة › مقال › مراجعة النظراء

دخول حر

2 اقتباسات (Scopus)
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Accogli, A., Lin, S. J., Severino, M., Kim, S. H., Huang, K., Rocca, C., Landsverk, M., Zaki, M. S., Al-Maawali, A., Srinivasan, V. M., Al-Thihli, K., Schaefer, G. B., Davis, M., Tonduti, D., Doneda, C., Marten, L. M., Mühlhausen, C., Gomez, M., Lamantea, E. & Mena, R. و39 الآخرين, Nizon, M., Procaccio, V., Begtrup, A., Telegrafi, A., Cui, H., Schulz, H. L., Mohr, J., Biskup, S., Loos, M. A., Aráoz, H. V., Salpietro, V., Keppen, L. D., Chitre, M., Petree, C., Raymond, L., Vogt, J., Sawyer, L. B., Basinger, A. A., Pedersen, S. V., Pearson, T. S., Grange, D. K., Lingappa, L., McDunnah, P., Horvath, R., Cognè, B., Isidor, B., Hahn, A., Gripp, K. W., Jafarnejad, S. M., Østergaard, E., Prada, C. E., Ghezzi, D., Gowda, V. K., Taylor, R. W., Sonenberg, N., Houlden, H., Sissler, M., Varshney, G. K. & Maroofian, R., نوفمبر 1 2023, في: Genetics in Medicine. 25, 11, صفحة 100938 100938.
نتاج البحث: المساهمة في مجلة › مقال › مراجعة النظراء

دخول حر

4 اقتباسات (Scopus)

New Disease Progression Findings from Sultan Qaboos University Described (Transient response to high-dose niacin therapy in a patient with NAXE deficiency)
Al-Thihli, K., ALfutaisi, A. & AL-Murshedi, F.
٧/٢٣/٢٤
1 عنصر من تغطية إعلامية
الصحافة/الإعلام: Press / Media
Reports on Hypoglycemia Findings from Sultan Qaboos University Provide New Insights (Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families)
Al-Thihli, K., ALfutaisi, A., AL-Moamari, W. & AL-Murshedi, F.
١١/٢١/٢٣
1 عنصر من تغطية إعلامية
الصحافة/الإعلام: Press / Media
New Life Science Study Findings Recently Were Reported by Researchers at Sultan Qaboos University (Autosomal Recessive Notch3-related Leukodystrophy In Two Siblings and Review of the Literature)
Ganesh, A., Al-Thihli, K. & ALfutaisi, A.
١١/٢/٢٣
1 عنصر من تغطية إعلامية
الصحافة/الإعلام: Press / Media
Study Results from Sultan Qaboos University Hospital Update Understanding of Maple Syrup Urine Disease (Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination)
Al-Thihli, K., AL-Murshedi, F. & Al-Shidhani, A.
٩/١١/٢٣
1 عنصر من تغطية إعلامية
الصحافة/الإعلام: Press / Media

Al-Thihli Khalid

أوجه التعاون ومجالات البحث الرئيسية خلال السنوات الخمس الماضية

دراسة التفاصيل بدقة

A new paradigm for the molecular diagnosis of uncharacterized genetic disorders in the Omani population

Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency

Transient response to high-dose niacin therapy in a patient with NAXE deficiency

Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

New Disease Progression Findings from Sultan Qaboos University Described (Transient response to high-dose niacin therapy in a patient with NAXE deficiency)

Reports on Hypoglycemia Findings from Sultan Qaboos University Provide New Insights (Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families)

New Life Science Study Findings Recently Were Reported by Researchers at Sultan Qaboos University (Autosomal Recessive Notch3-related Leukodystrophy In Two Siblings and Review of the Literature)

Study Results from Sultan Qaboos University Hospital Update Understanding of Maple Syrup Urine Disease (Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination)

Al-Thihli Khalid

أوجه التعاون ومجالات البحث الرئيسية خلال السنوات الخمس الماضية

المشاريع

نتاج البحث

الصحافة / وسائل الإعلام