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AlMass, Rawan
32  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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..
 
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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/..
 
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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..
 
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