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Al-Thihli, Khalid
84  results:
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1

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Genetics in Medicine.  25 (2023)  11 - p. 100938 , 2023
Link: https://doi.org/10.1016/..
 
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2

Severe Neonatal Presentation of Progressive Familial Intrah..:

Al Housni, Samira ; Al-Thihli, Khalid ; Rahmatalla, Dafalla..
Sultan Qaboos University Medical Journal.  23 (2023)  4 - p. 543-546 , 2023
Link: https://doi.org/10.18295..
 
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3

Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Si..:

Al-Amrani, Fatema ; Al-Maawali, Almundher ; Al-Thihli, Khalid...
Pediatric Neurology.  148 (2023)  - p. 73-80 , 2023
Link: https://doi.org/10.1016/..
 
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4

Expanding the clinical spectrum of cytosolic phosphoenolpyr..:

Al Busaidi, Marwa ; Mohamed, Feda E. ; Al-Ajmi, Eiman...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Uptake of prenatal genetic diagnosis and termination of pre..:

Bruwer, Zandré ; Al Ubaidani, Salwa ; Al Kharusi, Khalsa...
Journal of Community Genetics.  13 (2022)  3 - p. 303-311 , 2022
Link: https://doi.org/10.1007/..
 
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6

Efficacy and safety of empagliflozin in glycogen storage di..:

Grünert, Sarah C. ; Derks, Terry G.J. ; Adrian, Katarina...
Genetics in Medicine.  24 (2022)  8 - p. 1781-1788 , 2022
Link: https://doi.org/10.1016/..
 
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7

The diagnostic yield, candidate genes, and pitfalls for a g..:

Al-Kasbi, Ghalia ; Al-Murshedi, Fathiya ; Al-Kindi, Adila...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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8

Joint Analysis of Phenotypic and Genomic Diversity Sheds Li..:

Mouterde, Médéric ; Daali, Youssef ; Rollason, Victoria...
Genome Biology and Evolution.  14 (2022)  12 - p. , 2022
Link: https://doi.org/10.1093/..
 
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9

Mucolipidosis Type IV in Omani Families with a Novel MCOLN1..:

Al-Alawi, Badriya ; Harikrishna, Beena ; Al-Thihli, Khalid...
Genes.  13 (2022)  2 - p. 248 , 2022
Link: https://doi.org/10.3390/..
 
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10

Genetic Causes, Clinical Features, and Survival of Underlyi..:

Al-Tamemi, Salem ; Al-Zadjali, Shoaib ; Bruwer, Zandre...
Journal of Clinical Immunology.  43 (2022)  2 - p. 452-465 , 2022
Link: https://doi.org/10.1007/..
 
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11

Syndrome of Inappropriate Antidiuretic Hormone Secretion in..:

Al-Hinai, Abdulhamid ; Al-Murshedi, Fathiya ; Al-Nabhani, Dana.
Sultan Qaboos University Medical Journal [SQUMJ].  21 (2021)  2 - p. e312-315 , 2021
Link: https://doi.org/10.18295..
 
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12

Hypoketotic hypoglycemia without neuromuscular complication..:

Al Shamsi, Bushra ; Al Murshedi, Fathiya ; Al Habsi, Asila.
European Journal of Human Genetics.  30 (2021)  8 - p. 976-979 , 2021
Link: https://doi.org/10.1038/..
 
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13

Endothelial Dysfunction and the Effect of Arginine and Citr..:

Al Jasmi, Fatma ; Al Zaabi, Nuha ; Al-Thihli, Khalid...
Journal of Central Nervous System Disease.  12 (2020)  - p. 117957352090937 , 2020
Link: https://doi.org/10.1177/..
 
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14

Safety of the Geneva Cocktail, a Cytochrome P450 and P-Glyc..:

Rollason, Victoria ; Mouterde, Médéric ; Daali, Youssef...
Drug Safety.  43 (2020)  11 - p. 1181-1189 , 2020
Link: https://doi.org/10.1007/..
 
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15

Assessment of methylcitrate and methylcitrate to citrate ra..:

Al-Dirbashi, Osama Y. ; Alfadhel, Majid ; Al-Thihli, Khalid...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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