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Goljan, Ewa
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1

A Novel Heterozygous De Novo MORC2 Missense Variant Causes ..:

Arbide, Daniel ; Elkhateeb, Nour ; Goljan, Ewa...
Case Reports in Genetics.  2024 (2024)  - p. 1-5 , 2024
Link: https://doi.org/10.1155/..
 
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2

Large-scale next generation sequencing based analysis of SL..:

Goljan, Ewa ; Abouelhoda, Mohammed ; Tahir, Asma...
Human Genomics.  18 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

The clinical utility of rapid exome sequencing in a consang..:

Monies, Dorota ; Goljan, Ewa ; Binmanee, Abdulaziz Mohammed...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

Identification of pharmacogenetic variants from large scale..:

Goljan, Ewa ; Abouelhoda, Mohammed ; ElKalioby, Mohamed M....
PLOS ONE.  17 (2022)  1 - p. e0263137 , 2022
Link: https://doi.org/10.1371/..
 
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5

Genetic Alterations in Pediatric Thyroid Cancer Using a Com..:

Alzahrani, Ali S ; Alswailem, Meshael ; Alswailem, Anwar Ali...
The Journal of Clinical Endocrinology & Metabolism.  105 (2020)  10 - p. 3324-3334 , 2020
Link: https://doi.org/10.1210/..
 
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6

Integrated Analysis of Whole Exome Sequencing and Copy Numb..:

Yemni, Eman Al ; Monies, Dorota ; Alkhairallah, Thamer...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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7

Correction: Corrigendum: Autozygosity reveals recessive mut..:

Monies, Dorota ; Maddirevula, Sateesh ; Kurdi, Wesam...
Genetics in Medicine.  20 (2018)  3 - p. 380 , 2018
Link: https://doi.org/10.1038/..
 
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8

Correction to: Recessive VARS2 mutation underlies a novel s..:

Alsemari, Abdulaziz ; Al-Younes, Banan ; Goljan, Ewa...
Human Genomics.  11 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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9

Autozygosity reveals recessive mutations and novel mechanis..:

Monies, Dorota ; Maddirevula, Sateesh ; Kurdi, Wesam...
Genetics in Medicine.  19 (2017)  10 - p. 1144-1150 , 2017
Link: https://doi.org/10.1038/..
 
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10

Identification of a novel genetic locus underlying tremor a..:

Monies, Dorota ; Abou Al-Shaar, Hussam ; Goljan, Ewa A....
Human Genomics.  11 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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11

The landscape of genetic diseases in Saudi Arabia based on ..:

Monies, Dorota ; Abouelhoda, Mohamed ; AlSayed, Moeenaldeen...
Human Genetics.  136 (2017)  8 - p. 921-939 , 2017
Link: https://doi.org/10.1007/..
 
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12

Whole exome sequencing reveals inherited and de novo varian..:

Al-Mubarak, Bashayer ; Abouelhoda, Mohamed ; Omar, Aisha...
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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13

Recessive VARS2 mutation underlies a novel syndrome with ep..:

Alsemari, Abdulaziz ; Al-Younes, Banan ; Goljan, Ewa...
Human Genomics.  11 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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14

A first-line diagnostic assay for limb-girdle muscular dyst..:

Monies, Dorota ; Alhindi, Hindi N. ; Almuhaizea, Mohamed A....
Human Genomics.  10 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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15

The clinical utility of rapid exome sequencing in a consang..:

Monies, Dorota ; Goljan, Ewa ; Assoum, Mirna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10283251/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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