Publications by authors named "Fatima Fadhli"

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A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
Syeda Ain Ul Batool, Ahmad Almatrafi, Fatima Fadhli, Majed Alluqmani, Sadia

Am J Med Genet A· April 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, Fatima M Al-Fadhli

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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Further Evidence of a Recessive Variant in as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.
Ahmad Almatrafi, Jamil A Hashmi, Fatima Fadhli, Asma Alharbi, Sibtain Afzal

Glob Med Genet· December 2020

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Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.
Jamil A Hashmi, Fatima Fadhli, Ahmed Almatrafi, Sibtain Afzal, Khushnooda Ramzan

Brain Dev· September 2020

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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, Fatima M Al-Fadhli

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, Fatima Al-Fadhli

J Inherit Metab Dis· September 2013

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