Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region von Hassnan, Zuhair Al, Hashmi, Nadia Al, Makhseed, Nawal, Omran, Tawfeg Ben, Al Jasmi, Fatma, Teneiji, Amal Al

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Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy von Tulbah, Sahar, Alruwaili, Nadiah, Alhashem, Amal, Aljohany, Arwa, Alhadeq, Faten, Brotons, Dimpna C. Albert, Alwadai, Abdullah, Al‐Hassnan, Zuhair N.

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A novel homozygous SCN5A variant detected in sick sinus syndrome von Alkorashy, Maarab, Al‐Ghamdi, Bandar, Tulbah, Sahar, Al‐Numair, Nouf S., Alhadeq, Faten, A Takroni, Saud, Al‐Hassnan, Zuhair N.

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Genomic analysis of primordial dwarfism reveals novel disease genes von 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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Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders von Alfadhel, Majid, Al Othaim, Ali, Al Saif, Saif, Al Mutairi, Fuad, Alsayed, Moeenaldeen, Rahbeeni, Zuhair, Alzaidan, Hamad, Alowain, Mohammed, Al‐Hassnan, Zuhair, Saeedi, Mohamad, Aljohery, Saeed, Alasmari, Ali, Faqeih, Eissa, Alwakeel, Mansour, AlMashary, Maher, Almohameed, Sulaiman, Alzahrani, Mohammed, Migdad, Abeer, Al‐Dirbashi, Osama Y, Rashed, Mohamed, Alamoudi, Mohamed, Jacob, Minnie, Alahaidib, Lujane, El‐Badaoui, Fahd, Saadallah, Amal, Alsulaiman, Ayman, Eyaid, Wafaa, Al‐Odaib, Ali

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Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes von 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 Analysis of Heterotaxy in a Consanguineous Cohort von Al‐Korashy, Maarab, Binomar, Hadeel, Al‐Mostafa, Abeer, Al‐Mogarri, Ibrahim, Al‐Oufi, Saud, Al‐Admawi, Mohamed, Al‐Jufan, Mansour, Echahidi, Najmeddine, Mokeem, Amal, Alfares, Ahmed, Ramzan, Khushnooda, Tulbah, Sahar, Al‐Qahtani, Aisha, Takroni, Saud, Maddirevula, Sateesh, Al‐Hassnan, Zuhair

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LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact von Beetz, Christian, Westenberger, Ana, Al‐Ali, Ruslan, Ameziane, Najim, Alhashmi, Nadia, Boustany, Rose‐Mary, Al Mutairi, Fuad, Alfadhel, Majid, Al‐Hassnan, Zuhair, AlSayed, Moenaldeen, Kandaswamy, Krishna K., Paknia, Omid, Skrahina, Volha, Rolfs, Arndt, Bauer, Peter

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Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions von Al-Owain, Mohammed, Al-Zaidan, Hamad, Al-Hassnan, Zuhair

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

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Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities von Alrakaf, Laila, Al‐Owain, Mohammed A., Busehail, Maryam, Alotaibi, Maha A., Monies, Dorota, Aldhalaan, Hesham M., Alhashem, Amal, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair A., Murshedi, Fathiya Al, Ani, Nadia Al, Al‐Maawali, Almundher, Ibrahim, Niema A., Abdulwahab, Firdous M., Alsagob, Maysoon, Hashem, Mais O., Ramadan, Wafaa, Abouelhoda, Mohamed, Meyer, Brian F., Kaya, Namik, Maddirevula, Sateesh, Alkuraya, Fowzan S.

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Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin von Balobaid, Ameera, Ben‐Omran, Tawfeg, Ramzan, Khushnooda, Altassan, Ruqaiah, Almureikhi, Mariam, Musa, Sara, Al‐Hashmi, Nadia, Al‐Owain, Mohammed, Al‐Zaidan, Hamad, Al‐Hassnan, Zuhair, Imtiaz, Faiqa, Al‐Sayed, Moeenaldeen

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

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Clinical Profile and Mutation Spectrum of Long QT Syndrome in Saudi Arabia: The Impact of Consanguinity von Al-Hassnan, Zuhair N., MD, Al-Fayyadh, Majid, MD, Al-Ghamdi, Bander, MD, Shafquat, Azam, MD, Mallawi, Yaseen, MD, Al-Hadeq, Faten, BA, Tulbah, Sahar, MS, Shinwari, Zarghuna MA., MS, Almesned, Abdulrahman, MD, Alakhfash, Ali, MD, Al Fadly, Fadel, MD, Hersi, Ahmed S., MD, Alhayani, Abdullah, MD, Al-Hashem, Amal, MD, Arafah, Dia, MD, Dzimiri, Nduna, PhD, Meyer, Brian, PhD, Rababh, Monther, BA, Al-Manea, Waleed, MD

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The many faces of peroxisomal disorders: Lessons from a large Arab cohort von Alshenaifi, Jumanah, Ewida, Nour, Anazi, Shams, Shamseldin, Hanan E., Patel, Nisha, Maddirevula, Sateesh, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Jacob, Minnie, Alhashem, Amal, Alzaidan, Hamad I., Seidahmed, Mohammed Z., Alhashemi, Nadia, Rawashdeh, Rifaat, Eyaid, Wafaa, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair, Alswaid, Abdulrahman, Hadid, Adnan, Qari, Alya, Mohammed, Dia A., El Khashab, Heba Y., Alfadhel, Majid, Abanemai, Mohammad, Sunbul, Rawda, Al Tala, Saeed, Alkhalifi, Salwa, Alkharfi, Turki, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, AlDubayan, Saud H., Kurdi, Wesam, Al‐Owain, Mohammed, Dasouki, Majed J., Kentab, Amal Y., Atyani, Suha, Makhseed, Nawal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

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A complex unit for a complex disease: the HCM-Family Unit von Vriz, Olga, AlSergani, Hani, Elshaer, Ahmed Nahid, Shaik, Abdullah, Mushtaq, Ali Hassan, Lioncino, Michele, Alamro, Bandar, Monda, Emanuele, Caiazza, Martina, Mauro, Ciro, Bossone, Eduardo, Al-Hassnan, Zuhair N, Albert-Brotons, Dimpna, Limongelli, Giuseppe

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Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry von 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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Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report von 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... von Alsufayan, Faris A. S., Rafique, Atif, Jarman, Abdulaziz, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair A., al-Qattan, Mohammad M., Mahabbat, Nehal

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Genetic Mosaicism in Calmodulinopathy von 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, Jr, Alfred L

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