E-LIB Suche - Ergebnisse für: Al Aqeel, Aida

1

Recommendations for genetic variation data capture in devel..:

Patrinos, George P. ; Al Aama, Jumana ; Al Aqeel, Aida...
Human Mutation. 32 (2010) 1 - p. 2-9 , 2010

Link: https://doi.org/10.1002/..

2

Loss of MMP-2 disrupts skeletal and craniofacial developmen..:

Mosig, Rebecca A. ; Dowling, Oonagh ; DiFeo, Analisa...
Human Molecular Genetics. 16 (2007) 9 - p. 1113-1123 , 2007

Link: https://doi.org/10.1093/..

3

Mutation of the matrix metalloproteinase 2 gene (MMP2) caus..:

Martignetti, John A. ; Aqeel, Aida Al ; Sewairi, Wafaa Al...
Nature Genetics. 28 (2001) 3 - p. 261-265 , 2001

Link: https://doi.org/10.1038/..

4

Inherited multicentric osteolysis with arthritis: A variant..:

Al Aqeel, Aida ; Al Sewairi, Wafa ; Edress, Burhan...
American Journal of Medical Genetics. 93 (2000) 1 - p. 11-18 , 2000

Link: https://doi.org/10.1002/..

5

Genetic variants in components of the NALCN–UNC80–UNC79 ion..:

Bramswig, Nuria C. ; Bertoli-Avella, Aida M. ; Albrecht, Beate...
Human Genetics. 137 (2018) 9 - p. 753-768 , 2018

Link: https://doi.org/10.1007/..

6

Expanded Newborn Screening Programme in Saudi Arabia: Are W..:

Al Aqeel, Aida I
Journal of Paediatrics and Child Health. 53 (2017) 12 - p. 1242-1242 , 2017

Link: https://doi.org/10.1111/..

7

Prevention and Care of Genetic Disorders: An Islamic Perspe..:

, In: Genetic Disorders Among Arab Populations,

AL Aqeel, Aida I. - p. 705-723 , 2010

Link: https://doi.org/10.1007/..

8

Practical guidelines addressing ethical issues pertaining t..:

Povey, Sue ; Al Aqeel, Aida I. ; Cambon-Thomsen, Anne...
Human Mutation. 31 (2010) 11 - p. 1179-1184 , 2010

Link: https://doi.org/10.1002/..

9

Planning the Human Variome Project: The Spain report:

Kaput, Jim ; Cotton, Richard G.H. ; Hardman, Lauren...
Human Mutation. 30 (2009) 4 - p. 496-510 , 2009

Link: https://doi.org/10.1002/..

10

Capturing all disease-causing mutations for clinical and re..:

Cotton, Richard G.H. ; Al Aqeel, Aida I. ; Al-Mulla, Fahd...
Genetics in Medicine. 11 (2009) 12 - p. 843-849 , 2009

Link: https://doi.org/10.1097/..

11

Islamic ethical framework for research into and prevention ..:

Al Aqeel, Aida I
Nature Genetics. 39 (2007) 11 - p. 1293-1298 , 2007

Link: https://doi.org/10.1038/..

12

Response of 6-Pyruvoyltetrahydropterin Synthase Deficiency ..:

Aida Al Aqeel ; Ozand, Pinar T. ; Gascon, Generoso G....
Journal of Child Neurology. 7 (1992) 1_suppl - p. S26-S30 , 1992

Link: https://doi.org/10.1177/..

13

Genetic variants in components of the NALCN–UNC80–UNC79 ion..:

Bramswig, Nuria ; Bertoli-Avella, Aida ; Albrecht, Beate...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-018-1929-5. , 2018

Link: https://amu.hal.science/..

14

Genetic variants in components of the NALCN–UNC80–UNC79 ion..:

Bramswig, Nuria ; Bertoli-Avella, Aida ; Albrecht, Beate...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-018-1929-5. , 2018

Link: https://amu.hal.science/..

15

Genetic variants in components of the NALCN–UNC80–UNC79 ion..:

Bramswig, Nuria ; Bertoli-Avella, Aida ; Albrecht, Beate...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-018-1929-5. , 2018

Link: https://amu.hal.science/..