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Faqeih, Eissa
208  results:
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1

The phenotypic spectrum of PTCD3 deficiency:

Lace, Baiba ; Faqeih, Eissa ; Kaya, Namik...
JIMD Reports.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Expanding the phenotype of PPP1R21‐related neurodevelopment..:

Almannai, Mohammed ; Marafi, Dana ; Zaki, Maha S....
Clinical Genetics.  105 (2024)  6 - p. 620-629 , 2024
Link: https://doi.org/10.1111/..
 
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3

Human ABL1 deficiency syndrome (HADS) is a recognizable syn..:

AlAbdi, Lama ; Neuhann, Teresa ; Prott, Eva-Christina...
Human Genetics.  143 (2024)  6 - p. 739-745 , 2024
Link: https://doi.org/10.1007/..
 
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4

Clinical and Molecular Characteristics of Neuronal Ceroid L..:

Saleh, Mohammed M. ; Hamhom, Abdulrahim M. ; Al-Otaibi, Ali...
Pediatric Neurology.  155 (2024)  - p. 149-155 , 2024
Link: https://doi.org/10.1016/..
 
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5

Bi-allelic variants in CEP295 cause Seckel-like syndrome pr..:

Li, Niu ; Xu, Yufei ; Chen, Hongzhu...
eBioMedicine.  99 (2024)  - p. 104940 , 2024
Link: https://doi.org/10.1016/..
 
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6

Non-invasive prenatal testing: a revolutionary journey in p..:

Abedalthagafi, Malak ; Bawazeer, Shahad ; Fawaz, Romy I....
Frontiers in Medicine.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, e..:

Faqeih, Eissa A. ; Alghamdi, Malak Ali ; Almahroos, Marwa A....
Genetics in Medicine.  25 (2023)  2 - p. 100323 , 2023
Link: https://doi.org/10.1016/..
 
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8

Gain and loss of function variants in EZH1 disrupt neurogen..:

Gracia-Diaz, Carolina ; Zhou, Yijing ; Yang, Qian...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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9

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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10

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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11

Hypomorphic GINS3 variants alter DNA replication and cause ..:

McQuaid, Mary E. ; Ahmed, Kashif ; Tran, Stephanie...
JCI Insight.  7 (2022)  10 - p. , 2022
Link: https://doi.org/10.1172/..
 
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12

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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13

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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14

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiologica..:

Alfadhel, Majid ; Almuqbil, Mohammed ; Al Mutairi, Fuad...
Frontiers in Pediatrics.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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15

Clinical characterization and further confirmation of the a..:

Bilal Shamsi, Monis ; Saleh, Mohamed ; Almuntashri, Makki...
Journal of Human Genetics.  66 (2021)  7 - p. 689-695 , 2021
Link: https://doi.org/10.1038/..
 
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