Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development von Nahorski, Michael S, Maddirevula, Sateesh, Ishimura, Ryosuke, Alsahli, Saud, Brady, Angela F, Begemann, Anaïs, Mizushima, Tsunehiro, Guzmán-Vega, Francisco J, Obata, Miki, Ichimura, Yoshinobu, Alsaif, Hessa S, Anazi, Shams, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Alfadhel, Majid, Eyaid, Wafa, Zweier, Markus, Steindl, Katharina, Rauch, Anita, Arold, Stefan T, Woods, C Geoffrey, Komatsu, Masaaki, Alkuraya, Fowzan S

Volltext

Genomic and phenotypic delineation of congenital microcephaly von Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel, Basma, Patel, Nisha, Al-Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Hamad, Muddathir, Tabarki, Brahim, Alwadei, Ali H., Alhazzani, Fahad, Bashiri, Fahad A., Kentab, Amal, Şahintürk, Serdar, Sherr, Elliott, Fregeau, Brieana, Sogati, Samira, Alshahwan, Saad Ali M., Alkhalifi, Salwa, Alhumaidi, Zainab, Temtamy, Samia, Aglan, Mona, Otaify, Ghada, Girisha, Katta M., Tulbah, Maha, Seidahmed, Mohammed Zain, Salih, Mustafa A., Abouelhoda, Mohamed, Momin, Afaque A., Saffar, Muna Al, Partlow, Jennifer N., Arold, Stefan T., Faqeih, Eissa, Walsh, Christopher, Alkuraya, Fowzan S.

Volltext

Advanced Photoelectrochemical Hydrogen Generation by CdO-g-C3N4 in Aqueous Medium under Visible Light von Iqbal, Naseer, Khan, Muhammad Shahzeb, Zubair, Muhammad, Khan, Safyan Akram, Ali, Asghar, Aldhafeeri, Naif, Alsahli, Saud, Alanzi, Misheal, Enazi, Abdelazeez, Alroyle, Talal, Alrashidi, Abdullatif

Volltext

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans von Shaheen, Ranad, Alsahli, Saud, Ewida, Nour, Alzahrani, Fatema, Shamseldin, Hanan E., Patel, Nisha, Al Qahtani, Awad, Alhebbi, Homoud, Alhashem, Amal, Al‐Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Abouelhoda, Mohamed, Monies, Dorota, Al‐Hussaini, Abdulrahman, Alzouman, Muneerah A., Shagrani, Mohammad, Faqeih, Eissa, Alkuraya, Fowzan S.

Volltext

Assessing satisfaction, quality of life, and HbA1c changes in type 1 diabetes patients who are using freestyle libre glucose monitoring von Alsahli, Majed A, Alalwan, Abdulaziz, Aburisheh, Khaled H, Alarifi, Faisal F, Alshaya, Hesham M, Alkholaif, Abdulrahman F, Shadid, Abdulrahman M, Alsahli, Saud A, Alsahly, Abdullaziz A, Alkhalifah, Mohammed K

Volltext

Seasonal variations of respiratory viruses detected from children with respiratory tract infections in Riyadh, Saudi Arabia von Albogami, Saad S., Alotaibi, Meshal R., Alsahli, Saud A., Masuadi, Emad, Alshaalan, Mohammad

Volltext

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield von Alfares, Ahmed, Alfadhel, Majid, Wani, Tariq, Alsahli, Saud, Alluhaydan, Iram, Al Mutairi, Fuad, Alothaim, Ali, Albalwi, Mohammed, Al subaie, Lamia, Alturki, Saeed, Al-Twaijri, Waleed, Alrifai, Muhammad, Al-Rumayya, Ahmed, Alameer, Seham, Faqeeh, Eissa, Alasmari, Ali, Alsamman, Abdulaziz, Tashkandia, Soha, Alghamdi, Abdulaziz, Alhashem, Amal, Tabarki, Brahim, AlShahwan, Saad, Hundallah, Khalid, Wali, Sami, Al-Hebbi, Homoud, Babiker, Amir, Mohamed, Sarar, Eyaid, Wafaa, Zada, Abdul Ali Peer

Volltext

Expanding the phenome and variome of skeletal dysplasia von Maddirevula, Sateesh, Alsahli, Saud, Alhabeeb, Lamees, Patel, Nisha, Alzahrani, Fatema, Shamseldin, Hanan E., Anazi, Shams, Ewida, Nour, Alsaif, Hessa S., Mohamed, Jawahir Y., Alazami, Anas M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, Alshammari, Muneera, Alsagheir, Afaf, Seidahmed, Mohammed Zain, Sogati, Samira, Aglan, Mona S, Hamad, Muddathir H., Salih, Mustafa A., Hamed, Ahlam A., Alhashmi, Nadia, Nabil, Amira, Alfadli, Fatima, Abdel-Salam, Ghada M.H., Alkuraya, Hisham, Peitee, Winnie Ong, Keng, W.T., Qasem, Abdullah, Mushiba, Aziza M., Zaki, Maha S, Fassad, Mahmoud R., Alfadhel, Majid, Alexander, Saji, Sabr, Yasser, Temtamy, Samia, Ekbote, Alka V, Ismail, Samira, Hosny, Gamal Ahmed, Otaify, Ghada A., Amr, Khalda, Al Tala, Saeed, Khan, Arif O., Rizk, Tamer, Alaqeel, Aida, Alsiddiky, Abdulmonem, Singh, Ankur, Kapoor, Seema, Alhashem, Amal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

Volltext

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4 von Alsahli, Saud, Alrifai, Muhammad Talal, Al Tala, Saeed, Mutairi, Fuad Al, Alfadhel, Majid

Volltext

Further Delineation of Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome type 4 (CAMRQ4); Report of 5 New Patients and Review of Previously R... von Alsahli, Saud, Alfadhel, Majid

Volltext

Sex and Culture Differences in Cultural Intelligence: A Study Comparing Saudi Arabians and Egyptians von Ziada, Khaled Elsayed, van der Linden, Dimitri, Dutton, Edward, Almalki, Nabil Sharaf, Bakhiet, Salaheldin Farah Attallah, Ihsan, Zohra, Furnham, Adrian, Essa, Yossry Ahmed Sayed, Alqafari, Shehana Mohammed, Alsahli, Daghaim Saud, Aljbr, Abdulrahman Saad Rashd

Volltext

Expanding the genetic heterogeneity of intellectual disability von Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.

Volltext

Advanced Photoelectrochemical Hydrogen Generation by CdO-g-C[sub.3]N[sub.4] in Aqueous Medium under Visible Light von Iqbal, Naseer, Khan, Muhammad Shahzeb, Zubair, Muhammad, Khan, Safyan Akram, Ali, Asghar, Aldhafeeri, Naif, Alsahli, Saud, Alanzi, Misheal, Enazi, Abdelazeez, Alroyle, Talal, Alrashidi, Abdullatif

Volltext

Congenital disorders of glycosylation: The Saudi experience von Alsubhi, Sarah, Alhashem, Amal, Faqeih, Eissa, Alfadhel, Majid, Alfaifi, Abdullah, Altuwaijri, Waleed, Alsahli, Saud, Aldhalaan, Hesham, Alkuraya, Fowzan S., Hundallah, Khalid, Mahmoud, Adel, Alasmari, Ali, Mutairi, Fuad Al, Abduraouf, Hanem, AlRasheed, Layan, Alshahwan, Saad, Tabarki, Brahim

Volltext

Advanced Photoelectrochemical Hydrogen Generation by CdO-g-C 3 N 4 in Aqueous Medium under Visible Light von Iqbal, Naseer, Khan, Muhammad Shahzeb, Zubair, Muhammad, Khan, Safyan Akram, Ali, Asghar, Aldhafeeri, Naif, Alsahli, Saud, Alanzi, Misheal, Enazi, Abdelazeez, Alroyle, Talal, Alrashidi, Abdullatif

Volltext

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures von Alsahli, Saud, Alfares, Ahmed, Guzmán-Vega, Francisco J., Arold, Stefan T., Ba-Armah, Duaa, Al Mutairi, Fuad

Volltext

KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome von Alsahli, Saud, Arold, Stefan T., Alfares, Ahmed, Alhaddad, Bader, Al Balwi, Mohammed, Kamsteeg, Erik‐Jan, Al‐Twaijri, Waleed, Alfadhel, Majid

Volltext

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy von Alsahli, Saud, Al-Twaijri, Waleed, Al Mutairi, Fuad

Volltext

Confirming the pathogenicity of NECAP 1 in early onset epileptic encephalopathy von Alsahli, Saud, Al‐Twaijri, Waleed, Al Mutairi, Fuad

Volltext

Aortic calcification in Gaucher disease: a case report von Alsahli, Saud, Bubshait, Dalal K, Rahbeeni, Zuhair A, Alfadhel, Majid

Volltext