Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi populationGoljan, Ewa ; Abouelhoda, Mohammed ; Tahir, Asma ; ElKalioby, Mohamed ; Meyer, Brian ; Monies, DorotaHuman genomics, 2024-03, Vol.18 (1), p.30-30 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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2 |
Material Type: Artigo
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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data miningAbouelhoda, Mohamed ; Mohty, Dania ; Alayary, Islam ; Meyer, Brian F ; Arold, Stefan T ; Fadel, Bahaa M ; Monies, DorotaHuman genomics, 2021-08, Vol.15 (1), p.52-52, Article 52 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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3 |
Material Type: Artigo
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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 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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4 |
Material Type: Artigo
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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 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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5 |
Material Type: Artigo
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Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadismAlsemari, Abdulaziz ; Al-Younes, Banan ; Goljan, Ewa ; Jaroudi, Dyala ; BinHumaid, Faisal ; Meyer, Brian F ; Arold, Stefan T ; Monies, DorotaHuman genomics, 2017-11, Vol.11 (1), p.28-28, Article 28 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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6 |
Material Type: Artigo
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Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a siblingKor, Yılmaz ; Zou, Minjing ; Al-Rijjal, Roua A ; Monies, Dorota ; Meyer, Brian F ; Shi, YufeiBMC medical genetics, 2018-07, Vol.19 (1), p.115-115, Article 115 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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7 |
Material Type: Artigo
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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 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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8 |
Material Type: Artigo
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Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadismAlsemari, Abdulaziz ; Al-Younes, Banan ; Goljan, Ewa ; Jaroudi, Dyala ; BinHumaid, Faisal ; Meyer, Brian F ; Arold, Stefan T ; Monies, DorotaHuman genomics, 2017-12, Vol.11 (1), p.33-33, Article 33 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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9 |
Material Type: Artigo
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesMonies, Dorota ; Abouelhoda, Mohamed ; AlSayed, Moeenaldeen ; Alhassnan, Zuhair ; Alotaibi, Maha ; Al-Owain, Mohammed ; Shah, Ayaz ; Rahbeeni, Zuhair ; Al-Muhaizea, Mohammad A. ; Alzaidan, Hamad I. ; Cupler, Edward ; Bohlega, Saeed ; Faqeih, Eissa ; Faden, Maha ; Alyounes, Banan ; Jaroudi, Dyala ; Goljan, Ewa ; Elbardisy, Hadeel ; Akilan, Asma ; Albar, Renad ; Aldhalaan, Hesham ; Gulab, Shamshad ; Chedrawi, Aziza ; Al Saud, Bandar K ; Kurdi, Wesam ; Makhseed, Nawal ; Alqasim, Tahani ; El Khashab, Heba Y. ; Al-Mousa, Hamoud ; Kanaan, Imaduddin ; Algoufi, Talal ; Alsaleem, Khalid ; Basha, Talal A. ; Al-Murshedi, Fathiya ; Al-Kindy, Adila ; Al-Hajjar, Sami ; Alyamani, Suad ; Aldhekri, Hasan ; Al-Mehaidib, Ali ; Arnaout, Rand ; Dabbagh, Omar ; Shagrani, Mohammad ; Broering, Dieter ; Alqassmi, Amal ; Almugbel, Maisoon ; AlQuaiz, Mohammed ; Alsaman, Abdulaziz ; Al-Thihli, Khalid ; Sulaiman, Raashda A. ; Al-Dekhail, Wajeeh ; Alsaegh, Abeer ; Bashiri, Fahad A. ; Qari, Alya ; Alhomadi, Suzan ; Alkuraya, Hisham ; Alsebayel, Mohammed ; Hamad, Muddathir H ; Szonyi, Laszlo ; Abaalkhail, Faisal ; Al-Mayouf, Sulaiman M. ; Almojalli, Hamad ; Alqadi, Khalid S. ; Elsiesy, Hussien ; Shuaib, Taghreed M. ; Seidahmed, Mohammed Zain ; Abosoudah, Ibraheem ; Akleh, Hana ; AlGhonaium, Abdulaziz ; Alkharfy, Turki M. ; Al Mutairi, Fuad ; Eyaid, Wafa ; Alshanbary, Abdullah ; Sheikh, Farrukh R. ; Alsohaibani, Fahad I. ; Al Tala, Saeed ; Balkhy, Soher ; Bassiouni, Randa ; Alenizi, Ahmed S. ; Hussein, Maged H. ; Hassan, Saeed ; Khalil, Mohamed ; Tabarki, Brahim ; Alshahwan, Saad ; Oshi, Amira ; Sabr, Yasser ; Alsaadoun, Saad ; Salih, Mustafa A. ; Mohamed, Sarar ; Sultana, Habiba ; Tamim, Abdullah ; El-Haj, Moayad ; Alshahrani, Saif ; Bubshait, Dalal K. ; Alfadhel, Majid ; Faquih, Tariq ; El-Kalioby, Mohamed ; Shah, Zeeshan ; Moghrabi, Nabil ; Meyer, Brian F. ; Alkuraya, Fowzan S.Human genetics, 2017-08, Vol.136 (8), p.921-939 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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10 |
Material Type: Artigo
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Homogeneity and distinctiveness of Polish paternal lineages revealed by y chromosome microsatellite haplotype analysisPLOSKI, Rafal ; WOZNIAK, Marcin ; LESSIG, Rüdiger ; JOBLING, Mark A ; ROEWER, Lutz ; KAYSER, Manfred ; PAWLOWSKI, Ryszard ; MONIES, Dorota Marta ; BRANICKI, Wojciech ; KUPIEC, Tomasz ; KLOOSTERMAN, Ate ; DOBOSZ, Tadeusz ; BOSCH, Elena ; NOWAK, MagdalenaHuman genetics, 2002-06, Vol.110 (6), p.592-600 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |