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Islamic ethical framework for research into and prevention of genetic diseases.
Published in:
Nature Genetics, 2007, v. 39, n. 11, p. 1293, doi. 10.1038/ng.2007.14
By:
- Al Aqeel, Aida I.
Publication type:
Article
Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome.
Published in:
Nature Genetics, 2002, v. 32, n. 3, p. 448
By:
- Parvari, Ruti;
- Hershkovitz, Eli;
- Grossman, Nili;
- Gorodischer, Rafael;
- Loeys, Bart;
- Zecic, Alexandra;
- Mortier, Geert;
- Gregory, Simon;
- Sharony, Reuven;
- Kambouris, Marios;
- Sakati, Nadia;
- Meyer, Brian F.;
- Al Aqeel, Aida I.;
- Al Humaidan, Abdul Karim;
- Al Zanhrani, Fatma;
- Al Swaid, Abdulrahman;
- Al Othman, Johara;
- Diaz, George A.;
- Weiner, Rory;
- Khan, K. Tahseen S.
Publication type:
Article
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Published in:
Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5
By:
- Bramswig, Nuria C.;
- Bertoli-Avella, Aida M.;
- Albrecht, Beate;
- Al Aqeel, Aida I.;
- Alhashem, Amal;
- Al-Sannaa, Nouriya;
- Bah, Maissa;
- Bröhl, Katharina;
- Depienne, Christel;
- Dorison, Nathalie;
- Doummar, Diane;
- Ehmke, Nadja;
- Elbendary, Hasnaa M.;
- Gorokhova, Svetlana;
- Héron, Delphine;
- Horn, Denise;
- James, Kiely;
- Keren, Boris;
- Kuechler, Alma;
- Ismail, Samira
Publication type:
Article
Expanded Newborn Screening Programme in Saudi Arabia: Are We Ready?
Published in:
2017
By:
- Al Aqeel, Aida I
Publication type:
Letter
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study.
Published in:
Saudi Medical Journal, 2020, v. 41, n. 7, p. 703, doi. 10.15537/smj.2020.7.25147
By:
- Mohamed, Sarar;
- Elsheikh, Wafa;
- Al-Aqeel, Aida I.;
- Alhashem, Amal M.;
- Alodaib, Ali;
- Alahaideb, Lujane;
- Almashary, Maher;
- Alharbi, Fahad;
- AlMalawi, Horia;
- Ammari, Amer;
- Almohaimeed, Sulaiman
Publication type:
Article
Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.
Published in:
Saudi Medical Journal, 2020, v. 41, n. 2, p. 199, doi. 10.15537/smj.2020.2.24885
By:
- Salih, Rihab M.;
- Mohammed, Esraa A.;
- Alhashem, Amal M.;
- Mohamed, Sarar;
- Al-aqeel, Aida I.
Publication type:
Article
Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia.
Published in:
Saudi Medical Journal, 2020, v. 41, n. 1, p. 98, doi. 10.15537/smj.2020.1.24760
By:
- Alhashem, Amal M.;
- Salih, Rihab M.;
- Al-Aqeel, Aida I.;
- Mohamed, Sarar
Publication type:
Article
Preimplantation genetic diagnosis of Morquio disease.
Published in:
Prenatal Diagnosis, 2008, v. 28, n. 10, p. 900, doi. 10.1002/pd.2081
By:
- Qubbaj, Wafa;
- Al-Aqeel, Aida I.;
- Al-Hassnan, Zuhair;
- Al-Duraihim, Adel;
- Awartani, Khalid;
- Al-Rejjal, Rafat;
- Coskun, Serdar
Publication type:
Article
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).
Published in:
Human Mutation, 2010, v. 31, n. 11, p. 1179, doi. 10.1002/humu.21339
By:
- Povey, Sue;
- Al Aqeel, Aida I.;
- Cambon-Thomsen, Anne;
- Dalgleish, Raymond;
- den Dunnen, Johan T.;
- Firth, Helen V.;
- Greenblatt, Marc S.;
- Barash, Carol Isaacson;
- Parker, Michael;
- Patrinos, George P.;
- Savige, Judith;
- Sobrido, Maria-Jesus;
- Winship, Ingrid;
- Cotton, Richard G.H.
Publication type:
Article
Planning the Human Variome Project: The Spain report.
Published in:
Human Mutation, 2009, v. 30, n. 4, p. 496, doi. 10.1002/humu.20972
By:
- Kaput, Jim;
- Cotton, Richard G.H.;
- Hardman, Lauren;
- Watson, Michael;
- Al Aqeel, Aida I.;
- Al-Aama, Jumana Y.;
- Al-Mulla, Fahd;
- Alonso, Santos;
- Aretz, Stefan;
- Auerbach, Arleen D.;
- Bapat, Bharati;
- Bernstein, Inge T.;
- Bhak, Jong;
- Bleoo, Stacey L.;
- Blöcker, Helmut;
- Brenner, Steven E.;
- Burn, John;
- Bustamante, Mariona;
- Calzone, Rita;
- Cambon-Thomsen, Anne
Publication type:
Article

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