Works by Alanzi, Talal

Results: 10

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
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
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
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
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
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
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
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