Publications by authors named "Talal AlAnzi"

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Adult genomic medicine: lessons from a multisite study of 2700 patients.
Khadijah Bakur, Halima Hamid, Bader Alhaddad, Majid Alfadhel, Amal Alhashem, Talal Alanzi

Genome Med· September 2025

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

JIMD Rep· January 2025

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Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective.
Majid Alfadhel, Nouriya Al Sannaa, Rawda Sunbul, Huda Al-Khawaja, Sumayah Askandarani, Talal Alanzi

Ther Clin Risk Manag· September 2024

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Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case.
Talal AlAnzi, Sarar Mohamed, Amal AlHashem, Hadeel AlRukban

Cureus· April 2024

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Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Fatima Alabdulrazzaq, Talal Alanzi, Haya H Al-Balool, Alice Gardham, Emma Wakeling

Mol Genet Genomic Med· December 2023

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Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.
Ana Westenberger, Adriana Ruiz-Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Talal Alanzi

Mov Disord· March 2023

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Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.
Fahad Alabbas, Talal Alanzi, Abdulrahman Alrasheed, Mohammed Essa, Ghaleb Elyamany

J Clin Immunol· February 2023

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A novel variant of gene causes mild polyglucosan myopathy.
Talal AlAnzi, Fahad Al Harbi, AbdulAziz AlGhamdi, Sarar Mohamed

Neurosciences (Riyadh)· January 2022

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Inferior alveolar nerve damage secondary to orthodontic treatment: A systematic scoping review.
Ahmad M AlAli, Talal H AlAnzi

Int J Risk Saf Med· October 2021

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The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening.
Talal AlAnzi, Fahad J Al Harbi, Joharah AlFaifii, Sarar Mohamed

Saudi Med J· February 2021

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Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review.
Fahad Alabbas, Ghaleb Elyamany, Talal Alanzi, Tahani Bin Ali, Fatma Albatniji

BMC Pediatr· February 2021

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Proteus syndrome caused by novel somatic AKT1 duplication.
Talal AlAnzi, Eman Al-Mashharawi, Amal Alhashem

Saudi Med J· January 2021

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An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Hanan E Shamseldin, Ibrahim Al Mogarri, Mansour M Alqwaiee, Adel S Alharbi, Khaled Baqais, Talal AlAnzi

Hum Genet· October 2020

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Development and validation of a score for emergency intervention in patients with acute renal colic secondary to ureteric stones.
Abdullatif Al-Terki, Ahmed R El-Nahas, Usama Abdelhamid, Mohamed A Al-Ruwaished, Talal Alanzi

Arab J Urol· May 2020

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A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis.
Talal Alanzi, Amal Alhashem, Khalid Dagriri, Fatema Alzahrani, Fowzan S Alkuraya

Eur J Hum Genet· April 2020

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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.
Zafer Yüksel, Florian Vogel, Amal M Alhashem, Talal S A Alanzi, Brahim Tabarki

Clin Genet· May 2019

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Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.
Nasir A Bakshi, Talal Al-Anzi, Said Y Mohamed, Zuhair Rahbeeni, Moeen AlSayed

Am J Med Genet A· March 2018

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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Talal Alanzi

Am J Hum Genet· July 2017

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Grafted tubularised incised-plate urethroplasty: An objective assessment of outcome with lessons learnt from surgical experience with 263 cases.
Vipul Gupta, Sunil Kumar Yadav, Talal Alanzi, Islam Amer, Mohmmad Salah

Arab J Urol· December 2016

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