Publications by authors named "Fatima Alfadhli"

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A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family.
Abdulfatah M Alayoubi, Fatima Alfadhli, Mehnaz, Alia M Albalawi, Khushnooda Ramzan

Sci Rep· October 2024

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A Rare Presentation of a 12-Year-Old With Systemic Infantile Hyalinosis: A Case Report and Review of the Literature.
Fatima Alfadhli, Layan Alrehaili, Joud N Bindekhayel, Laila Alzamil, Abdulrahman Alrehaili

Cureus· August 2024

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Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the gene underlying clinical variant of α-mannosidosis.
Jamil Amjad Hashmi, Muhammad Latif, Reham M Balahmar, Muhammad Zeeshan Ali, Fatima Alfadhli

Front Genet· August 2024

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Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.
Asmat Ullah, Abid Ali Shah, Majed Alluqmani, Nighat Haider, Hasan Aman, Fatima Alfadhli

Int J Dev Neurosci· December 2022

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NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.
Ambreen Ijaz, Fatima Alfadhli, Azizah Alharbi, Yasir Naseem Khan, Yasser Khaled Alhawas

Eur J Med Genet· October 2022

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Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
Monis Bilal Shamsi, Mohamed Saleh, Makki Almuntashri, Essa Alharby, Manar Samman

J Hum Genet· July 2021

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Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Fatima M Al-Fadhli, Manal Afqi, Mona Hamza Sairafi, Makki Almuntashri, Essa Alharby

Clin Genet· May 2021

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Missense Mutations in the Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome.
Alia M Albalawi, Jamil A Hashmi, Fatima Alfadhli, Ahmad Almatrafi, Khushnooda Ramzan

Ann Dermatol· February 2020

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A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.
Ahmad Almatrafi, Fatima Alfadhli, Yasir Naseem Khan, Sibtain Afzal, Jamil A Hashmi

Genet Test Mol Biomarkers· May 2019

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GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
Nisha Patel, Hanan E Shamseldin, Nadia Sakati, Arif O Khan, Ameen Softa

Am J Hum Genet· May 2017

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Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.
Ranad Shaheen, Amal Hashem, Ghada M H Abdel-Salam, Fatima Al-Fadhli, Nour Ewida

Hum Genet· October 2016

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Clinical and biochemical features associated with BCS1L mutation.
Mohammed Al-Owain, Dilek Colak, Albandary Albakheet, Banan Al-Younes, Zainab Al-Humaidi

J Inherit Metab Dis· September 2013

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