Al Aqeel, Aida I.: search on Z-Library

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1

10.1038/90100

Martignetti, John A., Aqeel, Aida Al, Sewairi, Wafaa Al, Boumah, Christine E., Kambouris, Marios, Mayouf, S. Al, Sheth, K.V., Eid, W. Al, Dowling, Oonagh, Harris, Juliette, Glucksman, Marc J., Bahabri

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 1.17 MB

english, 2001

2

Islamic ethical framework for research into and prevention of genetic diseases

Al Aqeel, Aida I

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 351 KB

english, 2007

3

Mutations in Known Disease Genes Account for the Majority of Autosomal Recessive Retinal Dystrophies

Patel, Nisha, Alkuraya, Hisham, Alzahrani, Shahad Sharaf, Nowilaty, Sawsan R., Seidahmed, Mohammed Zain, Alhomedan, Amal, Ben-Omran, Tawfeg, Ghazi, Nicola G., Al-Aqeel, Aida, Al-Owain, Mohammed, Alzai

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018

4

Atlas of Inherited Metabolic Diseases 3E || Short-chain acyl CoA dehydrogenase deficiency

Nyhan, William, Barshop, Bruce, Al-Aqeel, Aida

Year:

2011

Language:

english

File:

PDF, 220 KB

english, 2011

5

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

George P. Patrinos, Jumana Al Aama, Aida Al Aqeel, Fahd Al-Mulla, Joseph Borg, Andrew Devereux, Alex E. Felice, Finlay Macrae, Makia J. Marafie, Michael B. Petersen, Ming Qi, Rajkumar S. Ramesar, Joel

Journal:

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

6

Planning the Human Variome Project: The Spain report

Jim Kaput, Richard G.H. Cotton, Lauren Hardman, Michael Watson, Aida I. Al Aqeel, Jumana Y. Al-Aama, Fahd Al-Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge T. Bernstein, J

Journal:

Year:

2009

Language:

english

File:

PDF, 244 KB

english, 2009

7

Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia

Namik Kaya, Dilek Colak, Albandary Al-Bakheet, Banan Al-Younes, Sahar Tulbah, Maha Daghestani, Fuad Al-Mutairi, Mohammed Al-Amoudi, Ali Al-Odaib, Aida I. Al-Aqeel

Journal:

Year:

2013

Language:

english

File:

PDF, 836 KB

english, 2013

8

The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII)

Aida Al-Aqeel, Pinar Ozand, Samia Sobki, Wafa Sewairi, Stephen Marx

Journal:

Clinical Endocrinology

Year:

1993

Language:

english

File:

PDF, 834 KB

english, 1993

9

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

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, Dian

Journal:

Year:

2018

Language:

english

File:

PDF, 1.65 MB

english, 2018

10

Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family

Aida Al Aqeel, Wafa Al Sewairi, Burhan Edress, Robert J. Gorlin, Robert J. Desnick, John A. Martignetti

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 817 KB

english, 2000

11

Expanded Newborn Screening Programme in Saudi Arabia: Are We Ready?

Al Aqeel, Aida I

Journal:

Journal of Paediatrics and Child Health

Year:

2017

Language:

english

File:

PDF, 79 KB

english, 2017

12

Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds

Wiese, Russell J., Goto, Hitoshi, Prahl, Jean M., Marx, Stephen J., Thomas, Monique, Al-Aqeel, Aida, DeLuca, H.F.

Journal:

Molecular and Cellular Endocrinology

Year:

1993

Language:

english

File:

PDF, 686 KB

english, 1993

13

Preimplantation genetic diagnosis of Morquio disease

Wafa Qubbaj, Aida I. Al-Aqeel, Zuhair Al-Hassnan, Adel Al-Duraihim, Khalid Awartani, Rafat Al-Rejjal, Serdar Coskun

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 68 KB

english, 2008

14

Response of 6-Pyruvoyltetrahydropterin Synthase Deficiency to Tetrahydrobiopterin

Aida Al Aqeel,, Ozand, P. T., Gascon, G. G., Hughes, H., Reynolds, C. T., Subramanyam, S. B.

Journal:

Journal of Child Neurology

Year:

1992

Language:

english

File:

PDF, 391 KB

english, 1992

15

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

Sue Povey, Aida I. Al Aqeel, Anne Cambon-Thomsen, Raymond Dalgleish, Johan T. den Dunnen, Helen V. Firth, Marc S. Greenblatt, Carol Isaacson Barash, Michael Parker, George P. Patrinos, Judith Savige,

Journal:

Year:

2010

Language:

english

File:

PDF, 145 KB

english, 2010

16

Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

Cotton, Richard G H, Al Aqeel, Aida I, Al-Mulla, Fahd, Carrera, Paola, Claustres, Mireille, Ekong, Rosemary, Hyland, Valentine J, Macrae, Finlay A, Marafie, Makia J, Paalman, Mark H, Patrinos, George

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 220 KB

english, 2009

17

Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia

Alhashem, Amal, Salih, Rihab, Al-Aqeel, Aida, Mohamed, Sarar

Journal:

Saudi Medical Journal

Year:

2020

File:

PDF, 248 KB

2020

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