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Rahbeeni, Zuhair A.
89  results:
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1

A founder variant expands the phenotype of WNT7B‐related PD..:

AlAbdi, Lama ; Rahbeeni, Zuhair ; Maddirevula, Sateesh...
Clinical Genetics.  106 (2024)  1 - p. 66-71 , 2024
Link: https://doi.org/10.1111/..
 
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2

Detailed genetic and clinical analysis of a novel de novo v..:

AlBakheet, Albandary ; AlQudairy, Hanan ; Alkhalifah, Joud...
Frontiers in Genetics.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

A founder DBR1 variant causes a lethal form of congenital i..:

Shamseldin, Hanan E. ; Sadagopan, Mukunth ; Martini, Javier...
Human Genetics.  142 (2023)  10 - p. 1491-1498 , 2023
Link: https://doi.org/10.1007/..
 
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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

COVID-19 in Unvaccinated patients with inherited metabolic ..:

Altassan, Ruqaiah ; Sulaiman, Raashda A. ; Alfalah, Abdullah...
European Journal of Medical Genetics.  65 (2022)  11 - p. 104602 , 2022
Link: https://doi.org/10.1016/..
 
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6

Further delineation of GEMIN4 related neurodevelopmental di..:

Altassan, Ruqaiah ; Qudair, Ahmad ; Alokaili, Riyadh...
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 2932-2940 , 2022
Link: https://doi.org/10.1002/..
 
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7

HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi..:

Alfadhel, Majid ; Abadel, Basma ; Almaghthawi, Hind...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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8

Comprehensive multi-omics analysis of G6PC3 deficiency-rela..:

Dasouki, Majed ; Alaiya, Ayodeele ; ElAmin, Tanziel...
iScience.  24 (2021)  3 - p. 102214 , 2021
Link: https://doi.org/10.1016/..
 
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9

Prenatal exome sequencing and chromosomal microarray analys..:

Al-Hamed, Mohamed H. ; Kurdi, Wesam ; Khan, Rubina...
Human Genetics.  141 (2021)  1 - p. 101-126 , 2021
Link: https://doi.org/10.1007/..
 
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10

Lethal variants in humans: lessons learned from a large mol..:

Shamseldin, Hanan E. ; AlAbdi, Lama ; Maddirevula, Sateesh...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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11

A Child with Progressive Hypertrophic Cardiomyopathy and La..:

AlFaris, Haya S ; Rahbeeni, Zuhair A ; Peake, Roy W A.
Clinical Chemistry.  67 (2021)  6 - p. 912-914 , 2021
Link: https://doi.org/10.1093/..
 
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12

Long-term effectiveness of carglumic acid in patients with ..:

Alfadhel, Majid ; Nashabat, Marwan ; Saleh, Mohammed...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome includ..:

Al-Qattan, Mohammad M. ; Rahbeeni, Zuhair A. ; Al-Hassnan, Zuhair N....
Case Reports in Genetics.  2020 (2020)  - p. 1-5 , 2020
Link: https://doi.org/10.1155/..
 
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14

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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15

A novel truncating variant in ring finger protein 113A (RNF..:

Mendelsohn, Bryce A. ; Beleford, Daniah T. ; Abu‐El‐Haija, Aya...
American Journal of Medical Genetics Part A.  182 (2019)  3 - p. 513-520 , 2019
Link: https://doi.org/10.1002/..
 
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