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Bubshait, Dalal K.
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1

BRAT1-related disorders: phenotypic spectrum and phenotype-..:

Engel, Camille ; Valence, Stephanie ; Delplancq, Geoffroy...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01410-z.  , 2023
Link: https://amu.hal.science/..
 
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2

BRAT1-related disorders: phenotypic spectrum and phenotype-..:

Engel, Camille ; Valence, Stephanie ; Delplancq, Geoffroy...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01410-z.  , 2023
Link: https://amu.hal.science/..
 
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3

Clinical profile, risk factors and outcomes of pediatric CO..:

Albuali, Waleed H ; AlGhamdi, Amal A ; Aldossary, Shaikha J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8919130/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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4

Bi-allelic loss-of-function variants in PPFIBP1 cause a neu..:

Rosenhahn, Erik ; O'Brien, Thomas J ; Zaki, Maha S...
American Journal of Human Genetics, 0002-9297, 2022, 109:8, s. 1421-1435.  , 2022
Link: http://urn.kb.se/resolve..
 
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5

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur...
https://ecommons.aku.edu/pakistan_fhs_mc_bbs/922.  , 2021
Link: https://ecommons.aku.edu..
 
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6

Identification of RPL5 gene variants and the risk of hepati..:

Hassan, Fathelrahman M ; Alsultan, Afnan A ; Alzahrani, Faisal...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9280514/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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7

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur...
EXC 2067: Multiscale Bioimaging.  , 2021
Link: https://resolver.sub.uni..
 
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8

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553613/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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9

Use of a Mortality Prediction Model in Children on Mechanic..:

Albuali, Waleed H ; Algamdi, Amal A ; Hasan, Elham A...
info:eu-repo/semantics/altIdentifier/doi/10.2147/JMDH.S282108.  , 2020
Link: https://www.dovepress.co..
 
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10

Use of a Mortality Prediction Model in Children on Mechanic..:

Albuali, Waleed H ; Algamdi, Amal A ; Hasan, Elham A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667207/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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11

Aortic calcification in Gaucher disease: a case report:

Alsahli, Saud ; Bubshait, Dalal K ; Rahbeeni, Zuhair A.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199969/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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12

The phenotype, genotype, and outcome of infantile-onset Pom..:

Al-Hassnan, Zuhair N ; Khalifa, Ola A ; Bubshait, Dalal K...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047460/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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13

Aortic calcification in Gaucher disease: a case report:

Alsahli, Saud ; Bubshait, Dalal K ; Rahbeeni, Zuhair A.
info:eu-repo/semantics/altIdentifier/doi/10.2147/TACG.S180995.  , 2018
Link: https://www.dovepress.co..
 
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14

Autozygome and high throughput confirmation of disease gene..:

Maddirevula, Sateesh ; Alzahrani, Fatema ; Al-Owain, Mohammed...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752307/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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15

Progressive deafness-dystonia due to SERAC1 mutations: A st..:

Maas, Roeltje R ; Iwanicka-Pronicka, Katarzyna ; Ucar, Sema Kalkan...
10.1002/ana.25110.  , 2017
Link: https://hdl.handle.net/1..
 
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