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Faqeih, Eissa
208  results:
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1

Kinesin family member 12‐related hepatopathy: A generally i..:

Vogel, Georg‐Friedrich ; Podpeskar, Alexandra ; Rieder, Dietmar...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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2

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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3

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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4

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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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/..
 
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6

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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7

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10806450/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
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8

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

Niu Li ; Yufei Xu ; Hongzhu Chen...
http://www.sciencedirect.com/science/article/pii/S2352396423005066.  , 2024
Link: https://doi.org/10.1016/..
 
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9

Genetic Insights from Consanguineous Cardiomyopathy Familie:

Maurer, Constance ; Boleti, Olga ; Najarzadeh Torbati, Paria...
Genes.  14 (2023)  1 - p. 182 , 2023
Link: https://doi.org/10.3390/..
 
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10

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine.  25 (2023)  1 - p. 135-142 , 2023
Link: https://doi.org/10.1016/..
 
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11

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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12

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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13

Biallelic variants in CRIPT cause a Rothmund-Thomson-like s..:

Averdunk, Luisa ; Huetzen, Maxim A. ; Moreno-Andrés, Daniel...
Genetics in Medicine.  25 (2023)  7 - p. 100836 , 2023
Link: https://doi.org/10.1016/..
 
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14

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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15

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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