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AlMass, Rawan
32
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Online (32)
Mediatypes
Articles (Online) (12)
OpenAccess-fulltext (20)
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1
SHQ1-associated neurodevelopmental disorder: Report of the ..:
AlHargan, Aljouhra
;
AlMuhaizea, Mohammed A.
;
Almass, Rawan
...
Human Genome Variation. 10 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
2
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consan..:
Aldosary, Mazhor
;
Alsagob, Maysoon
;
AlQudairy, Hanan
...
Cells. 11 (2022) 19 - p. 3154 , 2022
Link:
https://doi.org/10.3390/..
?
3
SLC25A42‐associated mitochondrial encephalomyopathy: Report..:
Aldosary, Mazhor
;
Baselm, Shahad
;
Abdulrahim, Maha
...
JIMD Reports. 60 (2021) 1 - p. 75-87 , 2021
Link:
https://doi.org/10.1002/..
?
4
Genetics of ataxia telangiectasia in a highly consanguineou..:
Al‐Muhaizea, Mohammed A.
;
Aldeeb, Hanouf
;
Almass, Rawan
...
Annals of Human Genetics. 86 (2021) 1 - p. 34-44 , 2021
Link:
https://doi.org/10.1111/..
?
5
Hematological findings associated with tubulin‐folding cofa..:
Al‐Bakheet, Albandary
;
Tohary, Mohamed
;
Khan, Sameena
...
Clinical Genetics. 99 (2021) 5 - p. 724-731 , 2021
Link:
https://doi.org/10.1111/..
?
6
Bi-allelic variants in HOPS complex subunit VPS41 cause cer..:
Sanderson, Leslie E
;
Lanko, Kristina
;
Alsagob, Maysoon
...
Brain. 144 (2021) 3 - p. 769-780 , 2021
Link:
https://doi.org/10.1093/..
?
7
Truncating mutations in YIF1B cause a progressive encephalo..:
AlMuhaizea, Mohammed
;
AlMass, Rawan
;
AlHargan, Aljouhra
...
Acta Neuropathologica. 139 (2020) 4 - p. 791-794 , 2020
Link:
https://doi.org/10.1007/..
?
8
Pyrostigmine therapy in a patient with VAMP1-related congen..:
Al-Muhaizea, Mohammad A.
;
AlQuait, Laila
;
AlRasheed, Afnan
...
Neuromuscular Disorders. 30 (2020) 7 - p. 611-615 , 2020
Link:
https://doi.org/10.1016/..
?
9
Identification of novel genomic imbalances in Saudi patient..:
Al-Hassnan, Zuhair N.
;
Albawardi, Waad
;
Almutairi, Faten
...
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
?
10
Further delineation of the phenotypic spectrum ofISCA2 defe..:
Alfadhel, Majid
;
Nashabat, Marwan
;
Alrifai, Muhammad Talal
...
European Journal of Paediatric Neurology. 22 (2018) 1 - p. 46-55 , 2018
Link:
https://doi.org/10.1016/..
?
11
A new association between CDK5RAP2 microcephaly and congeni..:
Alfares, Ahmed
;
Alhufayti, Ibtihal
;
Alsubaie, Lamia
...
Annals of Human Genetics. 82 (2017) 3 - p. 165-170 , 2017
Link:
https://doi.org/10.1111/..
?
12
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebel..:
Al-Muhaizea, Mohammad A.
;
AlMutairi, Faten
;
Almass, Rawan
...
The Cerebellum. 17 (2017) 3 - p. 276-285 , 2017
Link:
https://doi.org/10.1007/..
?
13
SHQ1-associated neurodevelopmental disorder: Report of the ..:
AlHargan, Aljouhra
;
AlMuhaizea, Mohammed A
;
AlMass, Rawan
...
https://www.nature.com/articles/s41439-023-00234-z. , 2023
Link:
http://hdl.handle.net/10..
?
14
Clinico-radiological features, molecular spectrum, and iden..:
Morava, Eva
;
Mirzadeh, Hanieh S
;
Maqbool, Shazia
...
80b5dd8c-2355-4842-bc5c-81ec5bccb092. , 2022
Link:
https://doi.org/10.1002/..
?
15
Clinico-radiological features, molecular spectrum, and iden..:
Scala, Marcello
;
Wortmann, Saskia B
;
Kaya, Namik
...
https://pure.eur.nl/en/publications/8f44f678-de01-492d-b764-468bcda6b382. , 2022
Link:
https://pure.eur.nl/en/p..
1-15