المؤلفون: Ruijmbeek, Claudine W.B., Housley, Filomena, Idrees, Hafiza, Housley, Michael P., Pestel, Jenny, Keller, Leonie, Lai, Jason K.H., van der Linde, Herma C., Willemsen, Rob, Piesker, Janett, Al-Hassnan, Zuhair N., Almesned, Abdulrahman, Dalinghaus, Michiel, van den Bersselaar, Lisa M., van Slegtenhorst, Marjon A., Tessadori, Federico, Bakkers, Jeroen, van Ham, Tjakko J., Stainier, Didier Y.R., Verhagen, Judith M.A., Reischauer, Sven

المساهمون: Cancer, Child Health, Cardiologie onderzoek 2, Onderzoek, Circulatory Health

مصطلحات موضوعية: General Medicine

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/451305

الاتاحة: https://dspace.library.uu.nl/handle/1874/451305

المؤلفون: Ruijmbeek, Claudine Wb, Housley, Filomena, Idrees, Hafiza, Housley, Michael P., Pestel, Jenny, Keller, Leonie, Lai, Jason Kh, der Linde, Herma C.van, Willemsen, Rob, Piesker, Janett, Al-Hassnan, Zuhair N., Almesned, Abdulrahman, Dalinghaus, Michiel, den Bersselaar, Lisa M.van, van Slegtenhorst, Marjon A., Tessadori, Federico, Bakkers, Jeroen, van Ham, Tjakko J., Stainier, Didier Yr, Verhagen, Judith Ma, Reischauer, Sven

المصدر: Ruijmbeek , C W , Housley , F , Idrees , H , Housley , M P , Pestel , J , Keller , L , Lai , J K , der Linde , H C V , Willemsen , R , Piesker , J , Al-Hassnan , Z N , Almesned , A , Dalinghaus , M , den Bersselaar , L M V , van Slegtenhorst , M A , Tessadori , F , Bakkers , J , van Ham , T J , Stainier , D Y , Verhagen , J M & Reischauer , S ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/f9807b96-37f5-4df7-a356-ff0fe9592532
https://doi.org/10.1172/jci.insight.168247
https://pure.eur.nl/ws/files/100809559/Biallelic_variants_in_FLII_cause_pediatric_cardiomyopathy_by.pdf
http://www.scopus.com/inward/record.url?scp=85170294934&partnerID=8YFLogxK

المؤلفون: Van Gucht, Ilse, Meester, Josephina, Rodrigues Bento, Jotte, Bastiaansen, Maaike, Bastianen, Jarl, Luyckx, Ilse, Van Den Heuvel, Lotte, Neutel, Cédric, Guns, Pieter-Jan, Vermont, Mandy, Fransen, Erik, Perik, Melanie, Velchev, Joe Davis, Alaerts, Maaike, Schepers, Dorien, Peeters, Silke, Pintelon, Isabel, Almesned, Abdulrahman, Ferla, Matteo P., Taylor, Jenny C., Dallosso, Anthony R., Williams, Maggie, Evans, Julie, Rosenfeld, Jill A., Sluysmans, Thierry, Rodrigues, Desiderio, Chikermane, Ashish, Bharmappanavara, Gangadhara, Vijayakumar, Kayal, Shahri, Hassan Mottaghi Moghaddam, Hashemi, Narges, Torbati, Paria Najarzadeh, Toosi, Mehran B., Al-Hassnan, Zuhair N., Vogt, Julie, Revencu, Nicole, Maystadt, Isabelle, Miller, Erin M., Weaver, K. Nicole, Begtrup, Amber, Houlden, Henry, Murphy, David, Maroofian, Reza, Pagnamenta, Alistair T., Van Laer, Lut, Loeys, Bart, Verstraeten, Aline

المساهمون: Genomics England Res Consortium

المصدر: 0002-9297 ; The American journal of human genetics

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/grantAgreement/EC/h2020/771945; info:eu-repo/semantics/altIdentifier/isi/000658897400009

الاتاحة: https://hdl.handle.net/10067/1795890151162165141
https://repository.uantwerpen.be/docstore/d:irua:7292

المؤلفون: Alghamdi, Malak A., Tohary, Mohammed, Alzaidan, Hamad, Imtiaz, Faiqa, Al‐Hassnan, Zuhair N.

المصدر: JIMD Reports ; volume 62, issue 1, page 91-96 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12248
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12248
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jmd2.12248

المؤلفون: Alakhfash, Ali, Alqwaiee, Abdullah, Almesned, Abdulrahman, Al-Hassnan, Zuhair N

المساهمون: Egorova, Anastasia, Ahmed, A Shaheer, Moreno-Ruiz, Luis Antonio, Tindale, Alexander, Kott, Katharine

المصدر: European Heart Journal - Case Reports ; volume 5, issue 7 ; ISSN 2514-2119

الاتاحة: https://doi.org/10.1093/ehjcr/ytab261
http://academic.oup.com/ehjcr/article-pdf/5/7/ytab261/39271084/ytab261.pdf

المؤلفون: Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter

المصدر: Genetics in Medicine ; volume 23, issue 8, page 1551-1568 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01159-0
https://www.nature.com/articles/s41436-021-01159-0.pdf
https://www.nature.com/articles/s41436-021-01159-0
https://api.elsevier.com/content/article/PII:S1098360021050656?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021050656?httpAccept=text/plain

المؤلفون: Al-Hassnan, Zuhair N., Almesned, Abdulrahman, Tulbah, Sahar, Alakhfash, Ali, Alhadeq, Faten, Alruwaili, Nadiah, Alkorashy, Maarab, Alhashem, Amal, Alrashdan, Ahmad, Faqeih, Eissa, Alkhalifi, Salwa M., Al humaidi, Zainab, Sogaty, Sameera, Azhari, Nawal, Bakhaider, Abdulrahman M., Al asmari, Ali, Awaji, Ali, Albash, Buthaina, Alhabdan, Mohammed, Alghamdi, Malak A., Alshuaibi, Walaa, Al-Hassnan, Raghad Z., Alshenqiti, Abduljabbar, Alqahtani, Aisha, Shinwari, Zarghuna, Rbabeh, Monther, Takroni, Saud, Alomrani, Ahmed, Albert Brotons, Dimpna C., AlQwaee, Abdullah M., Almanea, Waleed, Alfadley, Fadel A., Alfayyadh, Majid, Alwadai, Abdullah

المصدر: Circulation: Genomic and Precision Medicine ; volume 13, issue 5, page 504-514 ; ISSN 2574-8300 2574-8300

الاتاحة: http://dx.doi.org/10.1161/circgen.120.002969

المؤلفون: Cancer, Child Health, Cardiologie onderzoek 2, Onderzoek, Circulatory Health, Ruijmbeek, Claudine W.B., Housley, Filomena, Idrees, Hafiza, Housley, Michael P., Pestel, Jenny, Keller, Leonie, Lai, Jason K.H., van der Linde, Herma C., Willemsen, Rob, Piesker, Janett, Al-Hassnan, Zuhair N., Almesned, Abdulrahman, Dalinghaus, Michiel, van den Bersselaar, Lisa M., van Slegtenhorst, Marjon A., Tessadori, Federico, Bakkers, Jeroen, van Ham, Tjakko J., Stainier, Didier Y.R., Verhagen, Judith M.A., Reischauer, Sven

URL: https://doi.org/10.1172/jci.insight.168247
http://hdl.handle.net/1874/451305
http://www.scopus.com/inward/record.url?scp=85170294934&partnerID=8YFLogxK
2379-3708
JCI Insight
8
17
e168247

المؤلفون: Tulbah, Sahar, Alruwaili, Nadiah, Alhashem, Amal, Aljohany, Arwa, Alhadeq, Faten, Brotons, Dimpna C. Albert, Alwadai, Abdullah, Al‐Hassnan, Zuhair N.

المصدر: American Journal of Medical Genetics. Part A; Jan2024, Vol. 194 Issue 1, p59-63, 5p

المؤلفون: Al-Allaf, Faisal A, Abduljaleel, Zainularifeen, Athar, Mohammad, Taher, Mohiuddin M, Khan, Wajahatullah, Mehmet, Huseyin, Colakogullari, Mukaddes, Apostolidou, Sophia, Bigger, Brian, Waddington, Simon, Coutelle, Charles, Themis, Michael, Al-Ahdal, Mohammed N, Al-Mohanna, Futwan A, Al-Hassnan, Zuhair N, Bouazzaoui, Abdellatif

المصدر: Al-Allaf , F A , Abduljaleel , Z , Athar , M , Taher , M M , Khan , W , Mehmet , H , Colakogullari , M , Apostolidou , S , Bigger , B , Waddington , S , Coutelle , C , Themis , M , Al-Ahdal , M N , Al-Mohanna , F A , Al-Hassnan , Z N & Bouazzaoui , A 2019 , ' Modifying inter-cistronic sequence significantly enhances IRES dependent second gene expression in bicistronic vector : Construction of optimised cassette for gene therapy of familial hypercholesterolemia ' , Non-coding RNA ....

الاتاحة: https://research.manchester.ac.uk/en/publications/41e1cfe0-3e88-4625-aa91-d485b457d795
https://doi.org/10.1016/j.ncrna.2018.11.005

المؤلفون: Crotti, Lia, Spazzolini, Carla, Tester, David J, Ghidoni, Alice, Baruteau, Alban-Elouen, Beckmann, Britt-Maria, Behr, Elijah R, Bennett, Jeffrey S, Bezzina, Connie R, Bhuiyan, Zahurul A, Celiker, Alpay, Cerrone, Marina, Dagradi, Federica, De Ferrari, Gaetano M, Etheridge, Susan P, Fatah, Meena, Garcia-Pavia, Pablo, Al-Ghamdi, Saleh, Hamilton, Robert M, Al-Hassnan, Zuhair N, Horie, Minoru, Jimenez-Jaimez, Juan, Kanter, Ronald J, Kaski, Juan P, Kotta, Maria-Christina, Lahrouchi, Najim, Makita, Naomasa, Norrish, Gabrielle, Odland, Hans H, Ohno, Seiko, Papagiannis, John, Parati, Gianfranco, Sekarski, Nicole, Tveten, Kristian, Vatta, Matteo, Webster, Gregory, Wilde, Arthur A M, Wojciak, Julianne, George, Alfred L, Ackerman, Michael J, Schwartz, Peter J

مصطلحات موضوعية: Calmodulin, Cathecolaminergic polymorphic ventricular tachycardia, Idiopathic ventricular fibrillation, Long QT syndrome, Sudden death, Age of Onset, Arrhythmias, Cardiac, Child, Preschool, DNA Mutational Analysis, Death, Sudden, Female, Genetic Variation, Humans, Phenotype, Registries, Survival Rate, Tachycardia, Ventricular

Relation: http://hdl.handle.net/10668/14081; PMC6748747; https://boa.unimib.it/bitstream/10281/268570/2/Crotti%20Calm%20Registry%202019.pdf; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748747/pdf

الاتاحة: http://hdl.handle.net/10668/14081
https://doi.org/10.1093/eurheartj/ehz311
https://boa.unimib.it/bitstream/10281/268570/2/Crotti%20Calm%20Registry%202019.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6748747/pdf

المؤلفون: Wren, Lisa M, Jiménez-Jáimez, Juan, Al-Ghamdi, Saleh, Al-Aama, Jumana Y, Bdeir, Amnah, Al-Hassnan, Zuhair N, Kuan, Jyn L, Foo, Roger Y, Potet, Franck, Johnson, Christopher N, Aziz, Miriam C, Carvill, Gemma L, Kaski, Juan-Pablo, Crotti, Lia, Perin, Francesca, Monserrat, Lorenzo, Burridge, Paul W, Schwartz, Peter J, Chazin, Walter J, Bhuiyan, Zahurul A, George, Alfred L

مصطلحات موضوعية: arrhythmia, calmodulin, genotype, long QT syndrome, mosaicism, Arrhythmias, Cardiac, Base Sequence, Calcium, Child, Preschool, Electrophysiology, Female, Genetic Predisposition to Disease, Humans, Infant, Newborn, Male, Mutation, Missense, Pedigree

Relation: http://hdl.handle.net/10668/14447; PMC6751013; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751013/pdf

الاتاحة: http://hdl.handle.net/10668/14447
https://doi.org/10.1161/CIRCGEN.119.002581
https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.119.002581
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751013/pdf

المؤلفون: Al-Qattan, Mohammad M., Jarman, Abdulaziz, Rafique, Atif, Al-Hassnan, Zuhair N., Al-Qattan, Heba M.

المصدر: BMC Medical Genetics ; volume 20, issue 1 ; ISSN 1471-2350

الاتاحة: http://dx.doi.org/10.1186/s12881-019-0747-5
http://link.springer.com/content/pdf/10.1186/s12881-019-0747-5.pdf
http://link.springer.com/article/10.1186/s12881-019-0747-5/fulltext.html

المؤلفون: Alrashed, Norah A., Al-Manea, Waleed M., Tulbah, Sahar A., Al-Hassnan, Zuhair N.

المساهمون: King Abdulaziz City for Science and Technology, National Comprehensive Plan for Science and Technology

المصدر: International Journal of Pediatrics and Adolescent Medicine ; volume 6, issue 4, page 158-164 ; ISSN 2352-6467

الاتاحة: https://doi.org/10.1016/j.ijpam.2019.06.005
https://api.elsevier.com/content/article/PII:S2352646718301984?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352646718301984?httpAccept=text/plain
https://journals.lww.com/10.1016/j.ijpam.2019.06.005

المؤلفون: Derar, Nada, Al-Hassnan, Zuhair N, Al-Owain, Mohammed, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Moghrabi, Nabil, Alkuraya, Fowzan S

المصدر: Genetics in Medicine ; volume 21, issue 1, page 185-188 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-018-0014-8
https://www.nature.com/articles/s41436-018-0014-8
https://www.nature.com/articles/s41436-018-0014-8.pdf
https://api.elsevier.com/content/article/PII:S1098360021000812?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021000812?httpAccept=text/plain

المؤلفون: Tulbah, Sahar, Alruwaili, Nadiah, Alhashem, Amal, Aljohany, Arwa, Alhadeq, Faten, Brotons, Dimpna C. Albert, Alwadai, Abdullah, Al‐Hassnan, Zuhair N.

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 1, page 59-63 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63402
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63402

المؤلفون: Al-Hassnan, Zuhair N., Albawardi, Waad, Almutairi, Faten, AlMass, Rawan, AlBakheet, Albandary, Mustafa, Osama M., AlQuait, Laila, Shinwari, Zarghuna M. A., Wakil, Salma, Salih, Mustafa A., Al-Fayyadh, Majid, Hassan, Saeed M., Aljoufan, Mansour, Al-Nakhli, Osima, Levy, Brynn, AlMaarik, Balsam, Al-Hakami, Hana A., Alsagob, Maysoon, Colak, Dilek, Kaya, Namik

المساهمون: King Abdulaziz City for Science and Technology

المصدر: Molecular Cytogenetics ; volume 11, issue 1 ; ISSN 1755-8166

الاتاحة: http://dx.doi.org/10.1186/s13039-018-0356-6
http://link.springer.com/content/pdf/10.1186/s13039-018-0356-6.pdf

المؤلفون: Al-Hassnan, Zuhair N., Khalifa, Ola A., Bubshait, Dalal K., Tulbah, Sahar, Alkorashy, Maarab, Alzaidan, Hamad, Alowain, Mohammed, Rahbeeni, Zuhair, Al-Sayed, Moeen

المساهمون: King Abdulaziz City for Science and Technology, National Comprehensive Plan for Science and Technology (NCPST)

المصدر: Molecular Genetics and Metabolism Reports ; volume 15, page 50-54 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2018.02.001
https://api.elsevier.com/content/article/PII:S221442691730160X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S221442691730160X?httpAccept=text/plain

المؤلفون: AlFadley, Fadel, Abdelbaky, Naheel, Alhabdan, Mohammed, Issa, Ziad, Yansaneh, Abdulai, Al-Hassnan, Zuhair N., Albert-Brotons, Dimpna C.

المصدر: Pediatric Cardiology ; volume 43, issue 6, page 1373-1378 ; ISSN 0172-0643 1432-1971

الاتاحة: http://dx.doi.org/10.1007/s00246-022-02861-9
https://link.springer.com/content/pdf/10.1007/s00246-022-02861-9.pdf
https://link.springer.com/article/10.1007/s00246-022-02861-9/fulltext.html

المؤلفون: Alfadhel, Majid, Mutairi, Fuad Al, Makhseed, Nawal, Jasmi, Fatma Al, Al-Thihli, Khalid, Al-Jishi, Emtithal, AlSayed, Moeenaldeen, Al-Hassnan, Zuhair N, Al-Murshedi, Fathiya, Häberle, Johannes, Ben-Omran, Tawfeg

المصدر: Alfadhel, Majid; Mutairi, Fuad Al; Makhseed, Nawal; Jasmi, Fatma Al; Al-Thihli, Khalid; Al-Jishi, Emtithal; AlSayed, Moeenaldeen; Al-Hassnan, Zuhair N; Al-Murshedi, Fathiya; Häberle, Johannes; Ben-Omran, Tawfeg (2016). Guidelines for acute management of hyperammonemia in the Middle East region. Therapeutics and Clinical Risk Management, 12:479-487.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/132023/1/TCRM-93144-guidelines-for-acute-management-of-hyperammonemia-in-the-mid_033116.pdf; info:pmid/27099506; urn:issn:1176-6336

الاتاحة: https://www.zora.uzh.ch/id/eprint/132023/
https://doi.org/10.2147/TCRM.S93144