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Al‐Kasbi, Ghalia
7  results:
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1

Biallelic PTRHD1 Frameshift Variants Associated with Intell..:

Al‐Kasbi, Ghalia ; Al‐Saegh, Abeer ; Al‐Qassabi, Ahmed...
Movement Disorders Clinical Practice.  8 (2021)  8 - p. 1253-1257 , 2021
Link: https://doi.org/10.1002/..
 
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2

Deficiency of acyl‐CoA synthetase 5 is associated with a se..:

Al‐Thihli, Khalid ; Afting, Cassian ; Al‐Hashmi, Nadia...
Clinical Genetics.  99 (2020)  3 - p. 376-383 , 2020
Link: https://doi.org/10.1111/..
 
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3

Phenotypic spectrum of ALPK3‐related cardiomyopathy:

Al Senaidi, Khalfan ; Joshi, Niranjan ; Al‐Nabhani, Maryam...
American Journal of Medical Genetics Part A.  179 (2019)  7 - p. 1235-1240 , 2019
Link: https://doi.org/10.1002/..
 
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4

Missense mutations in SLC25A1 are associated with congenita..:

Al‐Futaisi, Amna ; Ahmad, Faraz ; Al‐Kasbi, Ghalia...
Clinical Genetics.  97 (2019)  4 - p. 666-667 , 2019
Link: https://doi.org/10.1111/..
 
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5

Biallelic loss-of-function variants of GFRA1 cause lethal b..:

Al-Shamsi, Bushra ; Al-Kasbi, Ghalia ; Al-Kindi, Adila...
European Journal of Medical Genetics.  65 (2022)  1 - p. 104376 , 2022
Link: https://doi.org/10.1016/..
 
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6

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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7

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

Ghalia Al-Kasbi ; Fathiya Al-Murshedi ; Adila Al-Kindi...
https://doi.org/10.1038/s41598-022-22036-z.  , 2022
Link: https://doi.org/10.1038/..
 
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