Works matching AU Alanzi, Talal

Results: 13

Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions.

Published in:

Movement Disorders, 2023, v. 38, n. 3, p. 502, doi. 10.1002/mds.29323

By:

Westenberger, Ana;
Ruiz‐Herrera, Adriana;
Bozdoğan, Sevcan;
Bisgin, Atil;
Almuqbil, Mohammed;
Alhashem, Amal;
Alanzi, Talal;
Romito, Antonio;
Rolfs, Arndt;
Dias, Patricia;
Gouveia Silva, Raquel;
Bertoli‐Avella, Aida M.;
Bauer, Peter;
Beetz, Christian

Publication type:

Article

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 631, doi. 10.1111/cge.13513

By:

Yüksel, Zafer;
Vogel, Florian;
Alhashem, Amal M.;
Alanzi, Talal S.A.;
Tabarki, Brahim;
Kampe, Kapil;
Kandaswamy, Krishna K.;
Werber, Martin;
Bertoli‐Avella, Aida M.;
Beetz, Christian;
Rolfs, Arndt;
Bauer, Peter

Publication type:

Article

Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective.

Published in:

Therapeutics & Clinical Risk Management, 2024, v. 20, p. 641, doi. 10.2147/TCRM.S475744

By:

Alfadhel, Majid;
Sannaa, Nouriya Al;
Sunbul, Rawda;
Al-Khawaja, Huda;
Askandarani, Sumayah;
Alanzi, Talal;
Elawad, Mamoun;
Fourtounas, Konstantinos

Publication type:

Article

Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 338, doi. 10.1007/s10875-022-01364-9

By:

Alabbas, Fahad;
Alanzi, Talal;
Alrasheed, Abdulrahman;
Essa, Mohammed;
Elyamany, Ghaleb;
Asiri, Abdulrahman;
Almutairi, Sajdi;
Al-Mayouf, Sulaiman;
Alenazi, Abdullatif;
Alsafadi, Danyah;
Ballourah, Walid;
Albalawi, Naif;
Hanafy, Ehab;
Al-Hebshi, Abdulqader;
Alrashidi, Seham;
Albatniji, Fatma;
Alfaraidi, Huda;
Ali, Tahani Bin;
Al Qwaiee, Mansour;
AlHilali, Maryam

Publication type:

Article

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.

Published in:

Human Genetics, 2020, v. 139, n. 10, p. 1273, doi. 10.1007/s00439-020-02170-2

By:

Shamseldin, Hanan E.;
Al Mogarri, Ibrahim;
Alqwaiee, Mansour M.;
Alharbi, Adel S.;
Baqais, Khaled;
AlSaadi, Muslim;
AlAnzi, Talal;
Alhashem, Amal;
Saghier, Afaf;
Ameen, Waleed;
Ibrahim, Niema;
Yang, Jason;
Abdulwahab, Firdous;
Hashem, Mais;
Chivukula, Raghu R.;
Alkuraya, Fowzan S.

Publication type:

Article

Development and validation of a score for emergency intervention in patients with acute renal colic secondary to ureteric stones.

Published in:

Arab Journal of Urology, 2020, v. 18, n. 4, p. 236, doi. 10.1080/2090598X.2020.1761143

By:

Al-Terki, Abdullatif;
El-Nahas, Ahmed R.;
Abdelhamid, Usama;
Al-Ruwaished, Mohamed A.;
Alanzi, Talal;
Al-Shaiji, Tariq F.

Publication type:

Article

Grafted tubularised incised-plate urethroplasty: An objective assessment of outcome with lessons learnt from surgical experience with 263 cases.

Published in:

Arab Journal of Urology, 2016, v. 14, n. 4, p. 299, doi. 10.1016/j.aju.2016.09.002

By:

Gupta, Vipul;
Yadav, Sunil Kumar;
Alanzi, Talal;
Amer, Islam;
Salah, Mohmmad;
Ahmed, Mamdouh

Publication type:

Article

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12454

By:

Mohamed, Ahmed Sarar;
AlAnzi, Talal;
Alhashem, Amal;
Alrukban, Hadeel;
Al Harbi, Fahad;
Mohamed, Sarar

Publication type:

Article

A novel variant of RBCK1 gene causes mild polyglucosan myopathy.

Published in:

Neurosciences, 2022, v. 27, n. 1, p. 45, doi. 10.17712/nsj.2022.1.20210681

By:

AlAnzi, Talal;
Al Harbi, Fahad;
AlGhamdi, AbdulAziz;
Mohamed, Sarar

Publication type:

Article

The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening.

Published in:

Saudi Medical Journal, 2021, v. 42, n. 2, p. 219, doi. 10.15537/smj.2021.2.25643

By:

AlAnzi, Talal;
Al Harbi, Fahad J.;
AlFaifi, Joharah;
Mohamed, Sarar

Publication type:

Article

Proteus syndrome caused by novel somatic AKT1 duplication.

Published in:

Saudi Medical Journal, 2021, v. 42, n. 1, p. 95, doi. 10.15537/smj.2021.1.25618

By:

AlAnzi, Talal;
Al-mashharawi, Eman;
Alhashem, Amal

Publication type:

Article

Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review.

Published in:

2021

By:

Alabbas, Fahad;
Elyamany, Ghaleb;
Alanzi, Talal;
Ali, Tahani Bin;
Albatniji, Fatma;
Alfaraidi, Huda

Publication type:

journal article

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256

By:

Alabdulrazzaq, Fatima;
Alanzi, Talal;
Al‐Balool, Haya H.;
Gardham, Alice;
Wakeling, Emma;
Leitch, Harry G.;
AlSayed, Moeenaldeen;
Abdulrahim, Maha;
Aladwani, Abdulaziz;
Romito, Antonio;
Kampe, Kapil;
Ferdinandusse, Sacha;
Aboelanine, Ashraf H.;
Abdullah, Amira;
Alwadani, Amal;
Bastaki, Laila;
Vaz, Frédéric M.;
Bertoli‐Avella, Aida M.;
Marafi, Dana

Publication type:

Article