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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Published in:
2018
By:
- Nahorski, Michael S.;
- Maddirevula, Sateesh;
- Ryosuke Ishimura;
- Alsahli, Saud;
- Brady, Angela F.;
- Begemann, Anaïs;
- Tsunehiro Mizushima;
- Guzmán-Vega, Francisco J.;
- Miki Obata;
- Yoshinobu Ichimura;
- Alsaif, Hessa S.;
- Anazi, Shams;
- Ibrahim, Niema;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Monies, Dorota;
- Abouelhoda, Mohamed;
- Meyer, Brian F.;
- Alfadhel, Majid;
- Eyaid, Wafa
Publication type:
journal article
KIF16B is a candidate gene for a novel autosomal‐recessive intellectual disability syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1602, doi. 10.1002/ajmg.a.38723
By:
- Alsahli, Saud;
- Arold, Stefan T.;
- Alfares, Ahmed;
- Alhaddad, Bader;
- Al Balwi, Mohammed;
- Kamsteeg, Erik‐Jan;
- Al‐Twaijri, Waleed;
- Alfadhel, Majid
Publication type:
Article
Congenital disorders of glycosylation: The Saudi experience.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2614, doi. 10.1002/ajmg.a.38358
By:
- 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
Publication type:
Article
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Published in:
2018
By:
- 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
Publication type:
Correction Notice
Expanding the genetic heterogeneity of intellectual disability.
Published in:
Human Genetics, 2017, v. 136, n. 11/12, p. 1419, doi. 10.1007/s00439-017-1843-2
By:
- Anazi, Shams;
- Maddirevula, Sateesh;
- Salpietro, Vincenzo;
- Asi, Yasmine;
- Alsahli, Saud;
- Alhashem, Amal;
- Shamseldin, Hanan;
- AlZahrani, Fatema;
- Patel, Nisha;
- Ibrahim, Niema;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Alhashmi, Nadia;
- Al Murshedi, Fathiya;
- Al Kindy, Adila;
- Alshaer, Ahmad;
- Rumayyan, Ahmed;
- Al Tala, Saeed;
- Kurdi, Wesam;
- Alsaman, Abdulaziz
Publication type:
Article
Advanced Photoelectrochemical Hydrogen Generation by CdO-g-C 3 N 4 in Aqueous Medium under Visible Light.
Published in:
Molecules, 2022, v. 27, n. 24, p. 8646, doi. 10.3390/molecules27248646
By:
- Iqbal, Naseer;
- Khan, Muhammad Shahzeb;
- Zubair, Muhammad;
- Khan, Safyan Akram;
- Ali, Asghar;
- Aldhafeeri, Naif;
- Alsahli, Saud;
- Alanzi, Misheal;
- Enazi, Abdelazeez;
- Alroyle, Talal;
- Alrashidi, Abdullatif
Publication type:
Article
Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy.
Published in:
Epilepsia Open, 2018, v. 3, n. 4, p. 524, doi. 10.1002/epi4.12263
By:
- Alsahli, Saud;
- Al‐Twaijri, Waleed;
- Al Mutairi, Fuad
Publication type:
Article
Sex and Culture Differences in Cultural Intelligence: A Study Comparing Saudi Arabians and Egyptians.
Published in:
SAGE Open, 2021, v. 11, n. 3, p. 1, doi. 10.1177/21582440211044177
By:
- 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
Publication type:
Article
Assessing satisfaction, quality of life, and HbA1c changes in type 1 diabetes patients who are using freestyle libre glucose monitoring.
Published in:
Journal of Family Medicine & Primary Care, 2024, v. 13, n. 6, p. 2367, doi. 10.4103/jfmpc.jfmpc_1630_23
By:
- 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.
Publication type:
Article
Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency.
Published in:
ACG Case Reports Journal, 2018, v. 5, p. 1, doi. 10.14309/crj.2018.93
By:
- Alsahli, Saud;
- Al Anazi, Aziz;
- Al Hatlani, Maher M.;
- Kashgari, Amna;
- Al Sufiani, Fahd;
- Alfadhel, Majid;
- Al Mutairi, Fuad
Publication type:
Article
Aortic calcification in Gaucher disease: a case report.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 107, doi. 10.2147/TACG.S180995
By:
- Alsahli, Saud;
- Bubshait, Dalal K;
- Rahbeeni, Zuhair A;
- Alfadhel, Majid
Publication type:
Article
Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.
Published in:
Neurogenetics, 2019, v. 20, n. 2, p. 109, doi. 10.1007/s10048-019-00573-6
By:
- Alsahli, Saud;
- Alfares, Ahmed;
- Guzmán-Vega, Francisco J.;
- Arold, Stefan T.;
- Ba-Armah, Duaa;
- Al Mutairi, Fuad
Publication type:
Article
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
Published in:
Journal of Central Nervous System Disease, 2018, n. 10, p. 1, doi. 10.1177/1179573518759682
By:
- Alsahli, Saud;
- Alrifai, Muhammad Talal;
- Al Tala, Saeed;
- Mutairi, Fuad Al;
- Alfadhel, Majid
Publication type:
Article

Found: 13