Search Results - "Alrukban, Hadeel"

A founder DBR1 variant causes a lethal form of congenital ichthyosis by 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.

“…DBR1 encodes the only known human lariat debranching enzyme and its deficiency has been found to cause an autosomal recessive inborn error of immunity…”
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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 by AlAnzi, Talal, Mohamed, Sarar, AlHashem, Amal, AlRukban, Hadeel

“…Alpha-mannosidosis is a rare lysosomal storage disorder with progressive impairments in motor functions, skeletal deformities, and immunodeficiency. Enzyme…”
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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance by 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.

“…Nuclear genetic disorders causing mitochondrial DNA (mtDNA) depletion are clinically and genetically heterogeneous, and the molecular etiology remains…”
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Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype by 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

“…Chromosome 16p11.2 deletions and duplications were found to be the second most common copy number variation (CNV) reported in cases with clinical presentation…”
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Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype by 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 center experience by Mohamed, Ahmed Sarar, AlAnzi, Talal, Alhashem, Amal, Alrukban, Hadeel, Al Harbi, Fahad, Mohamed, Sarar

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

“…Numerous syndromic forms of intellectual disability have been described including those with abnormal sweating pattern. To describe the clinical and molecular…”
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Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review by Alrukban, Hadeel, Chitayat, David

“…Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and…”
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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance by 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 by AlAnzi, Talal, Mohamed, Sarar, AlHashem, Amal, AlRukban, Hadeel

“…Alpha-mannosidosis is a rare lysosomal storage disorder with progressive impairments in motor functions, skeletal deformities, and immunodeficiency. Enzyme…”
Get full text