Search Results - "Busehail, Maryam Y"

Cowden Syndrome: A Rare Cause of Intestinal Polyposis by Isa, Hasan M, Mohamed, Zahra S, Isa, Zahra H, Busehail, Maryam Y, Alaradi, Zahra A

“…Cowden syndrome (CS) is a rare autosomal dominant genodermatosis disorder. This disease is characterized by the development of several hamartomata lesions in a…”
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A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child by Isa, Hasan M, Alkharsi, Fatema A, Busehail, Maryam Y, Haider, Fayza

“…Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder. It is caused by a defect in the action of the cilia lining multiple organs of…”
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Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review by Isa, Hasan M, Khudhair, Zainab A, Abdulla, Kawthar M, Idrees, Zahra A, Busehail, Maryam Y, Jawad, Zainab A

“…Johanson-Blizzard syndrome (JBS) is a rare hereditary autosomal recessive disorder caused by a mutation in the ubiquitin protein ligase E3 component n-recognin…”
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Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation by Isa, Hasan M, Khudair, Ahmed D, Marshall, Rachel A, Khudair, Aiman D, Al-Rawahia, Thuraiya H, Busehail, Maryam Y

“…Bile acid synthesis disorders (BASD) are a group of rare autosomal recessive disorders. Of the nine different versions, BASD type 4 is characterized by a gene…”
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A Novel Cyclin-Dependent Kinase 13 Variant and Unusual Association of Situs Inversus Partialis in a Child From Bahrain: A Case Report and Literature Review by Isa, Hasan M, Abdulla, Abdulla M, Abdulla, Kawthar M, Abdulnabi, Marwa J, Khudhair, Zainab A, Hubail, Zakariya J, Busehail, Maryam Y, Abdulrasool, Hasan A

“…Cyclin-dependent kinase 13 (CDK13)-related disorder is a rare autosomal dominant disease caused by pathogenic variants in the gene. This disorder was found to…”
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Genetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain by Isa, Hasan M, Alahmed, Fawzeya A, Busehail, Maryam Y, Isa, Zahra H, Abdulla, Kawthar M

“…Introduction Wilson disease (WD) is a rare inherited autosomal recessive disorder caused by a mutation in the ATP7B gene. This mutation affects copper…”
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Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review by Isa, Hasan M, Khudhair, Zainab A, Abdulla, Kawthar M, Idrees, Zahra A, Busehail, Maryam Y, Jawad, Zainab A

“…Johanson-Blizzard syndrome (JBS) is a rare hereditary autosomal recessive disorder caused by a mutation in the ubiquitin protein ligase E3 component n-recognin…”
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A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child by Isa, Hasan M, Alkharsi, Fatema A, Busehail, Maryam Y, Haider, Fayza

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Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation by Isa, Hasan M, Khudair, Ahmed D, Marshall, Rachel A, Khudair, Aiman D, Al-Rawahia, Thuraiya H, Busehail, Maryam Y

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