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11 |
Material Type: Artigo
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Molecular classification of blood and bleeding disorder genesBaz, Batoul ; Abouelhoda, Mohamed ; Owaidah, Tarek ; Dasouki, Majed ; Monies, Dorota ; Al Tassan, NadaNpj genomic medicine, 2021-07, Vol.6 (1), p.62-62, Article 62 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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12 |
Material Type: Artigo
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Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel diseaseDasouki, Majed ; Alaiya, Ayodeele ; ElAmin, Tanziel ; Shinwari, Zakia ; Monies, Dorota ; Abouelhoda, Mohamed ; Jabaan, Amjad ; Almourfi, Feras ; Rahbeeni, Zuhair ; Alsohaibani, Fahad ; Almohareb, Fahad ; Al-Zahrani, Hazzaa ; Guzmán Vega, Francisco J. ; Arold, Stefan T. ; Aljurf, Mahmoud ; Ahmed, Syed OsmaniScience, 2021-03, Vol.24 (3), p.102214-102214, Article 102214 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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13 |
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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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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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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16 |
Material Type: Artigo
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Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseasesAl-Mousa, Hamoud, MD ; Abouelhoda, Mohamed, PhD ; Monies, Dorota M., PhD ; Al-Tassan, Nada, PhD ; Al-Ghonaium, Abdulaziz, MD ; Al-Saud, Bandar, MD ; Al-Dhekri, Hasan, MD ; Arnaout, Rand, MD ; Al-Muhsen, Saleh, MD ; Ades, Nazema, BN ; Elshorbagi, Sahar, MD ; Al Gazlan, Sulaiman, MD ; Sheikh, Farrukh, MD ; Dasouki, Majed, MD ; El-Baik, Lina, BSc ; Elamin, Tanzeil, MS ; Jaber, Amal, BSc ; Kheir, Omnia, BPharm ; El-Kalioby, Mohamed, MS ; Subhani, Shazia, MS ; Al Idrissi, Eman, MD ; Al-Zahrani, Mofareh, MD ; Alhelale, Maryam, MD ; Alnader, Noukha, BSc ; Al-Otaibi, Afaf, BSc ; Kattan, Rana, BSc ; Al Abdelrahman, Khalid, BSc ; Al Breacan, Muna M., BSc ; Bin Humaid, Faisal S., BSc ; Wakil, Salma Majid, PhD ; Alzayer, Fadi, BSc ; Al-Dusery, Haya, BSc ; Faquih, Tariq, MS ; Al-Hissi, Safa, BSc ; Meyer, Brian F., PhD ; Hawwari, Abbas, PhDJournal of allergy and clinical immunology, 2016-06, Vol.137 (6), p.1780-1787 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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17 |
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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18 |
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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19 |
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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20 |
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 |