Zoekresultaten - Al-Hassnan, Zuhair N.

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping door Imtiaz, Faiqa, Al-Mostafa, Abeer, Al-Hassnan, Zuhair N.

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Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review door Alakhfash, Ali, Alqwaiee, Abdullah, Almesned, Abdulrahman, Al-Hassnan, Zuhair N

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Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases door Alghamdi, Malak A., Tohary, Mohammed, Alzaidan, Hamad, Imtiaz, Faiqa, Al‐Hassnan, Zuhair N.

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Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience door Alrashed, Norah A., Al-Manea, Waleed M., Tulbah, Sahar A., Al-Hassnan, Zuhair N.

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Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism door Sulaiman, Raashda Ainuddin, Al-Nemer, Maha, Khan, Rubina, Almasned, Munirah, Handoum, Bedour S., Al-Hassnan, Zuhair N.

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Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report door Al-Qattan, Mohammad M., Jarman, Abdulaziz, Rafique, Atif, Al-Hassnan, Zuhair N., Al-Qattan, Heba M.

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Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case... door Al-Qattan, Mohammad M., Rahbeeni, Zuhair A., Al-Hassnan, Zuhair N., Jarman, Abdulaziz, Rafique, Atif, Mahabbat, Nehal, Alsufayan, Faris A. S.

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Genomic analysis of primordial dwarfism reveals novel disease genes door Shaheen, Ranad, Faqeih, Eissa, Ansari, Shinu, Abdel-Salam, Ghada, Al-Hassnan, Zuhair N., Al-Shidi, Tarfa, Alomar, Rana, Sogaty, Sameera, Alkuraya, Fowzan S.

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The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients door Al-Hassnan, Zuhair N., Khalifa, Ola A., Bubshait, Dalal K., Tulbah, Sahar, Alkorashy, Maarab, Alzaidan, Hamad, Alowain, Mohammed, Rahbeeni, Zuhair, Al-Sayed, Moeen

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Guidelines for acute management of hyperammonemia in the Middle East region door 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

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Molecular Dynamics Simulation Reveals Exposed Residues in the Ligand-Binding Domain of the Low-Density Lipoprotein Receptor that Interacts with Vesicular Stomatitis Virus-G Envelop... door Al-Allaf, Faisal A., Abduljaleel, Zainularifeen, Taher, Mohiuddin M., Abdellatif, Ahmed A. H., Athar, Mohammad, Bogari, Neda M., Al-Ahdal, Mohammed N., Al-Mohanna, Futwan, Al-Hassnan, Zuhair N., Alzabeedi, Kamal H. Y., Banssir, Talib M., Bouazzaoui, Abdellatif

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Modifying inter-cistronic sequence significantly enhances IRES dependent second gene expression in bicistronic vector: Construction of optimised cassette for gene therapy of famili... door 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

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Identification of novel genomic imbalances in Saudi patients with congenital heart disease door 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

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Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes door Abu-Safieh, Leen, Alrashed, May, Anazi, Shamsa, Alkuraya, Hisham, Khan, Arif O., Al-Owain, Mohammed, Al-Zahrani, Jawahir, Al-Abdi, Lama, Hashem, Mais, Al-Tarimi, Salwa, Sebai, Mohammed-Adeeb, Shamia, Ahmed, Ray-zack, Mohamed D., Nassan, Malik, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair, Waheeb, Saad, Alkharashi, Abdullah, Abboud, Emad, Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

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Genetic Mosaicism in Calmodulinopathy door 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.

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Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome door McQuaid, Mary E., Ahmed, Kashif, Tran, Stephanie, Rousseau, Justine, Shaheen, Ranad, Kernohan, Kristin D., Yuki, Kyoko E., Grover, Prerna, Dreseris, Ema S., Ahmed, Sameen, Dupuis, Lucie, Stimec, Jennifer, Shago, Mary, Al-Hassnan, Zuhair N., Tremblay, Roch, Maass, Philipp G., Wilson, Michael D., Grunebaum, Eyal, Boycott, Kym M., Boisvert, François-Michel, Maddirevula, Sateesh, Faqeih, Eissa A., Almanjomi, Fahad, Khan, Zaheer Ullah, Alkuraya, Fowzan S., Campeau, Philippe M., Kannu, Peter, Campos, Eric I., Wurtele, Hugo

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Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders door 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

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Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry door 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

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A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 door Van Gucht, Ilse, Meester, Josephina A.N., Bento, Jotte Rodrigues, Bastiaansen, Maaike, Bastianen, Jarl, Luyckx, Ilse, Van Den Heuvel, Lotte, Neutel, Cédric H.G., Guns, Pieter-Jan, Vermont, Mandy, Fransen, Erik, Perik, Melanie H.A.M., 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, Mottaghi Moghaddam Shahri, Hassan, 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 L., Verstraeten, Aline

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