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Khouj, Ebtissal
14  Ergebnisse:
Personensuche X
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1

Human 'knockouts' of CSF3 display severe congenital neutrop..:

Khouj, Ebtissal ; Marafi, Dana ; Aljamal, Bayan...
British Journal of Haematology.  203 (2023)  3 - p. 477-480 , 2023
Link: https://doi.org/10.1111/..
 
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2

Biallelic NUDT2 variants defective in mRNA decapping cause ..:

Husain, Ralf A ; Jiao, Xinfu ; Hennings, J Christopher...
Brain.  147 (2023)  4 - p. 1197-1205 , 2023
Link: https://doi.org/10.1093/..
 
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3

Diagnostic implications of pitfalls in causal variant ident..:

AlAbdi, Lama ; Maddirevula, Sateesh ; Shamseldin, Hanan E....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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4

Beyond the exome: utility of long-read whole genome sequenc..:

AlAbdi, Lama ; Shamseldin, Hanan E. ; Khouj, Ebtissal...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Cerebrotendinous xanthomatosis: A candidate for ACMG list o..:

Khouj, Ebtissal ; Bohlega, Saeed ; Alkuraya, Fowzan S.
Clinical Genetics.  103 (2022)  1 - p. 125-126 , 2022
Link: https://doi.org/10.1111/..
 
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6

Further clinical delineation of microcephaly‐capillary malf..:

Postma, Julianne K. ; Zambonin, Jessica L. ; Khouj, Ebtissal...
American Journal of Medical Genetics Part A.  188 (2022)  11 - p. 3350-3357 , 2022
Link: https://doi.org/10.1002/..
 
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7

An inappropriate decline in ribosome levels drives a divers..:

Ni, Chunyang ; Yu, Leqian ; Vona, Barbara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10802443/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
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8

Beyond the exome: utility of long-read whole genome sequenc..:

AlAbdi, Lama ; Shamseldin, Hanan E ; Khouj, Ebtissal...
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-023-01270-8.  , 2023
Link: https://doi.org/10.1186/..
 
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9

Beyond the exome: utility of long-read whole genome sequenc..:

AlAbdi, Lama ; Shamseldin, Hanan E ; Khouj, Ebtissal...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10720148/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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10

Diagnostic implications of pitfalls in causal variant ident..:

AlAbdi, Lama ; Maddirevula, Sateesh ; Shamseldin, Hanan E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465531/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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11

Understanding the multifunctional domains of controller pro..:

Khouj, Ebtissal
http://hdl.handle.net/10379/14754.  , 2018
Link: http://hdl.handle.net/10..
 
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12

Beyond the exome: utility of long-read whole genome sequenc..:

Lama AlAbdi ; Hanan E. Shamseldin ; Ebtissal Khouj...
https://doi.org/10.1186/s13073-023-01270-8.  , 2023
Link: https://doi.org/10.1186/..
 
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13

Additional file 1 of Beyond the exome: utility of long-read..:

Lama AlAbdi ; Hanan E. Shamseldin ; Ebtissal Khouj...
doi:10.6084/m9.figshare.24819471.v1.  , 2023
Link: https://doi.org/10.6084/..
 
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14

Diagnostic implications of pitfalls in causal variant ident..:

Lama AlAbdi ; Sateesh Maddirevula ; Hanan E. Shamseldin...
https://doi.org/10.1038/s41467-023-40909-3.  , 2023
Link: https://doi.org/10.1038/..
 
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