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Faqeih, Eissa A
171
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Online (171)
Mediatypes
Articles (Online) (100)
OpenAccess-fulltext (71)
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1
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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2
Large Scale Genomic Investigation of Pediatric Cholestasis ..:
Maddirevula, Sateesh
;
Shagrani, Mohammad
;
Ji, Ae-Ri
...
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
?
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
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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5
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/..
?
6
CffDNA screening for Niemann–pick disease, type C1: a case ..:
Lau, Sydney A.
;
Fawaz, Romy I.
;
Rigobello, Robert
...
Frontiers in Medicine. 11 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
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7
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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8
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/..
?
9
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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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
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/..
?
12
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/..
?
13
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/..
?
14
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/..
?
15
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/..
1-15