A founder DBR1 variant causes a lethal form of congenital ichthyosis von Shamseldin, Hanan E., Sadagopan, Mukunth, Martini, Javier, Al-Ali, Ruslan, Radefeldt, Mandy, Ataei, Mojgan, Lemke, Sabrina, Rahbeeni, Zuhair, Al Mutairi, Fuad, Ababneh, Faroug, AlRukban, Hadeel A., Abdulwahab, Firdous, Alhajj, Saleh Mohammed, Bauer, Peter, Bertoli-Avella, Aida, Alkuraya, Fowzan S.

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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance von Bonnen, Penelope E., Yarham, John W., Besse, Arnaud, Wu, Ping, Faqeih, Eissa A., Al-Asmari, Ali Mohammad, Saleh, Mohammad A.M., Eyaid, Wafaa, Hadeel, Alrukban, He, Langping, Smith, Frances, Yau, Shu, Simcox, Eve M., Miwa, Satomi, Donti, Taraka, Abu-Amero, Khaled K., Wong, Lee-Jun, Craigen, William J., Graham, Brett H., Scott, Kenneth L., McFarland, Robert, Taylor, Robert W.

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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 von AlAnzi, Talal, Mohamed, Sarar, AlHashem, Amal, AlRukban, Hadeel

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Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype von Elsayed, Liena Elbaghir Omer, AlHarbi, Norah Ayed, Alqarni, Ashwaq Mohammed, Eltayeb, Huda Hussein Elwasila, Mostafa, Noura Mostafa Mohamed, Abdulrahim, Maha Mohammed, Zaid, Hadeel Ibrahim Bin, Alanzi, Latifah Mansour, Ababtain, Sarah Abdullah, Aldulaijan, Khawlah, Aloyouni, Sheka Yagub, Othman, Moneeb Abdullah Kassem, Alkheilewi, Mohammad Abdullah, Binduraihem, Adel Mohammed, Alrukban, Hadeel Abdollah, Ahmed, Hiba Yousif, AlRadini, Faten Abdullah, Alahdal, Hadil Mohammad, Mushiba, Aziza Mufareh, Alzaher, Omaima Abdulazeem

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Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype von Elsayed, Liena Elbaghir Omer, AlHarbi, Norah Ayed, Alqarni, Ashwaq Mohammed, Eltayeb, Huda Hussein Elwasila, Mostafa, Noura Mostafa Mohamed, Abdulrahim, Maha Mohammed, Zaid, Hadeel Ibrahim Bin, Alanzi, Latifah Mansour, Ababtain, Sarah Abdullah, Aldulaijan, Khawlah, Aloyouni, Sheka Yagub, Othman, Moneeb Abdullah Kassem, Alkheilewi, Mohammad Abdullah, Binduraihem, Adel Mohammed, Alrukban, Hadeel Abdollah, Ahmed, Hiba Yousif, AlRadini, Faten Abdullah, Alahdal, Hadil Mohammad, Mushiba, Aziza Mufareh, Alzaher, Omaima Abdulazeem

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

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Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review von Alrukban, Hadeel, Chitayat, David

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A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency von Shaheen, Ranad, Ansari, Shinu, Alshammari, Muneera J, Alkhalidi, Hisham, Alrukban, Hadeel, Eyaid, Wafaa, Alkuraya, Fowzan S

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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance von Bonnen, Penelope E., Yarham, John W., Besse, Arnaud, Wu, Ping, Faqeih, Eissa A., Al-Asmari, Ali Mohammad, Saleh, Mohammad A.M., Eyaid, Wafaa, Hadeel, Alrukban, He, Langping, Smith, Frances, Yau, Shu, Simcox, Eve M., Miwa, Satomi, Donti, Taraka, Abu-Amero, Khaled K., Wong, Lee-Jun, Craigen, William J., Graham, Brett H., Scott, Kenneth L., McFarland, Robert, Taylor, Robert W.

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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 von AlAnzi, Talal, Mohamed, Sarar, AlHashem, Amal, AlRukban, Hadeel

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