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Plos One|October 17, 2013
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsMustafa A Salih, Emeline Mundwiller, Arif O Khan, et al.Prenatal Diagnosis|May 3, 2026
Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary BoardAbdullah H Alfalah, Hamad Alzaidan, Ahmed Alfares, et al.Journal of Medical Genetics|September 2, 2016
<i>KCNA4</i> deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disabilityNamik Kaya, Maysoon Alsagob, Maria Cristina D'Adamo, et al.Genome Research|October 30, 2012
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genesLeen Abu-Safieh, May Alrashed, Shamsa Anazi, et al.Annals of Neurology|September 12, 2017
Mutations of KIF14 cause primary microcephaly by impairing cytokinesisAbubakar Moawia, Ranad Shaheen, Sajida Rasool, et al.The Journal of Experimental Medicine|February 4, 2010
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type IAnne Puel, Rainer Döffinger, Angels Natividad, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 6, 2024
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar AtaxiaRauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, et al.Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.Journal of Inherited Metabolic Disease|June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.The European Respiratory Journal|May 11, 2019
An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes <i>S100A3</i> and <i>S100A13</i>Eid A Al-Mutairy, Faiga Ahmad Imtiaz, Mohammed Khalid, et al.Pageof 9