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Genetic Aspects
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi familiesBohlega, Saeed A ; Al-Mubarak, Bashayer R ; Alyemni, Eman A ; Abouelhoda, Mohamed ; Monies, Dorota ; Mustafa, Abeer E ; Khalil, Dania S ; Al Haibi, Sara ; Abou Al-Shaar, Hussam ; Faquih, Tariq ; El-Kalioby, Mohamed ; Tahir, Asma I ; Al Tassan, Nada ABMC research notes, 2016-06, Vol.9 (1), p.295-295, Article 295 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 2 |
Material Type: Article
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A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathiesMonies, Dorota ; Alhindi, Hindi N ; Almuhaizea, Mohamed A ; Abouelhoda, Mohamed ; Alazami, Anas M ; Goljan, Ewa ; Alyounes, Banan ; Jaroudi, Dyala ; AlIssa, Abdulelah ; Alabdulrahman, Khalid ; Subhani, Shazia ; El-Kalioby, Mohamed ; Faquih, Tariq ; Wakil, Salma M ; Altassan, Nada A ; Meyer, Brian F ; Bohlega, SaeedHuman genomics, 2016-09, Vol.10 (1), p.32-32, Article 32 [Peer Reviewed Journal]England: BioMed CentralFull text available |
| 3 |
Material Type: Article
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Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi ArabiaBohlega, Saeed A ; Shinwari, Jameela M ; Al Sharif, Latifa J ; Khalil, Dania S ; Alkhairallah, Thamer S ; Al Tassan, Nada ABMC medical genetics, 2011-02, Vol.12 (1), p.27-27, Article 27 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 4 |
Material Type: Article
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Absence of mtDNA mutations in leukocytes of CADASIL patientsAbu-Amero, Khaled K ; Hellani, Ali ; Bohlega, SaeedBMC research notes, 2008-05, Vol.1 (1), p.16-16 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 5 |
Material Type: Article
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Identification of a novel genetic locus underlying tremor and dystoniaMonies, Dorota ; Abou Al-Shaar, Hussam ; Goljan, Ewa A ; Al-Younes, Banan ; Al-Breacan, Muna Monther Abdullah ; Al-Saif, Maher Mohammed ; Wakil, Salma M ; Meyer, Brian F ; Khabar, Khalid S A ; Bohlega, SaeedHuman genomics, 2017-11, Vol.11 (1), p.25-25, Article 25 [Peer Reviewed Journal]England: BioMed CentralFull text available |
| 6 |
Material Type: Article
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A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case reportAbu-Amero, Khaled K ; Al-Dhalaan, Hesham ; Bohlega, Saeed ; Hellani, Ali ; Taylor, Robert WJournal of medical case reports, 2009-10, Vol.3 (1), p.77-77, Article 77 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
| 7 |
Material Type: Article
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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypesAl-Hamed, Mohamed H. ; Kurdi, Wesam ; Khan, Rubina ; Tulbah, Maha ; AlNemer, Maha ; AlSahan, Nada ; AlMugbel, Maisoon ; Rafiullah, Rafiullah ; Assoum, Mirna ; Monies, Dorota ; Shah, Zeeshan ; Rahbeeni, Zuhair ; Derar, Nada ; Hakami, Fahad ; Almutairi, Gawaher ; AlOtaibi, Afaf ; Ali, Wafaa ; AlShammasi, Amal ; AlMubarak, Wardah ; AlDawoud, Samia ; AlAmri, Saja ; Saeed, Bashayer ; Bukhari, Hanifa ; Ali, Mohannad ; Akili, Rana ; Alquayt, Laila ; Hagos, Samia ; Elbardisy, Hadeel ; Akilan, Asma ; Almuhana, Nora ; AlKhalifah, Abrar ; Abouelhoda, Mohamed ; Ramzan, Khushnooda ; Sayer, John A. ; Imtiaz, FaiqaHuman genetics, 2022, Vol.141 (1), p.101-126 [Peer Reviewed Journal]Berlin/Heidelberg: Springer Berlin HeidelbergFull text available |
| 8 |
Material Type: Article
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Diagnosis and management of hematological manifestations of gaucher disease: Insights from Saudi ArabiaTarek Owaidah ; Fahad Alabbas ; Iman Alhazmi ; Hussain Al Saeed ; Saud Balelah ; Ghaleb ElYamany ; Ohoud Kashari ; Mohamad Qari ; Mahasen Saleh ; Sherif Roushdy ; Marwan ElBagouryJournal of Applied Hematology, 2021-07, Vol.12 (3), p.123-133 [Peer Reviewed Journal]Wolters Kluwer Medknow PublicationsFull text available |
| 9 |
Material Type: Article
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Client processing is altered by novel myopathy-causing mutations in the HSP40 J domainPullen, Melanie Y ; Weihl, Conrad C ; True, Heather L Brodsky, Jeffrey L.PloS one, 2020-06, Vol.15 (6), p.e0234207-e0234207 [Peer Reviewed Journal]United States: Public Library of ScienceFull text available |
| 10 |
Material Type: Article
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Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature reviewChu, Yung-Tsai ; Lin, Han-Yi ; Chen, Pei-Lung ; Lin, Chin-HsienBMC neurology, 2020-03, Vol.20 (1), p.101-101, Article 101 [Peer Reviewed Journal]England: BioMed Central LtdFull text available |
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