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Bubshait, Dalal K.
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1

Novel PTRH2 gene variant causing IMNEPD (infantile-onset mu..:

Bubshait, Dalal K.
Clinical and Experimental Pediatrics.  66 (2023)  5 - p. 223-225 , 2023
Link: https://doi.org/10.3345/..
 
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2

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

Engel, Camille ; Valence, Stéphanie ; Delplancq, Geoffroy...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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3

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

Rosenhahn, Erik ; O'Brien, Thomas J. ; Zaki, Maha S....
The American Journal of Human Genetics.  109 (2022)  8 - p. 1421-1435 , 2022
Link: https://doi.org/10.1016/..
 
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4

The morbid genome of ciliopathies: an update:

Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour...
Genetics in Medicine.  24 (2022)  4 - p. 966 , 2022
Link: https://doi.org/10.1016/..
 
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5

A review of polydactyly and its inheritance: Connecting the..:

Bubshait, Dalal K
Medicine.  101 (2022)  50 - p. e32060 , 2022
Link: https://doi.org/10.1097/..
 
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6

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

Albuali, Waleed H ; AlGhamdi, Amal A ; Aldossary, Shaikha J...
BMJ Open.  12 (2022)  3 - p. e053722 , 2022
Link: https://doi.org/10.1136/..
 
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7

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur...
Genetics in Medicine.  23 (2021)  11 - p. 2138-2149 , 2021
Link: https://doi.org/10.1038/..
 
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8

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

Hassan, Fathelrahman M. ; Alsultan, Afnan A. ; Alzahrani, Faisal...
Saudi Medical Journal.  42 (2021)  9 - p. 969-974 , 2021
Link: https://doi.org/10.15537..
 
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9

The morbid genome of ciliopathies: an update:

Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour...
Genetics in Medicine.  22 (2020)  6 - p. 1051-1060 , 2020
Link: https://doi.org/10.1038/..
 
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10

Malignant Infantile Osteopetrosis: A Case Report:

Bubshait, Dalal K ; Himdy, Ziyad E ; Fadaaq, Ola.
Cureus.  , 2020
Link: https://doi.org/10.7759/..
 
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11

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

Albuali, Waleed H ; Algamdi, Amal A ; Hasan, Elham A...
Journal of Multidisciplinary Healthcare.  13 (2020)  - p. 1507-1516 , 2020
Link: https://doi.org/10.2147/..
 
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12

Autozygome and high throughput confirmation of disease gene..:

Maddirevula, Sateesh ; Alzahrani, Fatema ; Al-Owain, Mohammed...
Genetics in Medicine.  21 (2019)  3 - p. 736-742 , 2019
Link: https://doi.org/10.1038/..
 
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13

Aortic calcification in Gaucher disease: a case report:

Alsahli, Saud ; Bubshait, Dalal K. ; Rahbeeni, Zuhair A..
The Application of Clinical Genetics.  11 (2018)  - p. 107-110 , 2018
Link: https://doi.org/10.2147/..
 
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14

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

Al-Hassnan, Zuhair N. ; Khalifa, Ola A. ; Bubshait, Dalal K....
Molecular Genetics and Metabolism Reports.  15 (2018)  - p. 50-54 , 2018
Link: https://doi.org/10.1016/..
 
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15

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

Maas, Roeltje R. ; Iwanicka‐Pronicka, Katarzyna ; Kalkan Ucar, Sema...
Annals of Neurology.  82 (2017)  6 - p. 1004-1015 , 2017
Link: https://doi.org/10.1002/..
 
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