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Bassam Abu-Libdeh
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1

GRID1/GluD1 homozygous variants linked to intellectual disa..:

Ung, Dévina C. ; Pietrancosta, Nicolas ; Badillo, Elena Baz...
Molecular Psychiatry.  29 (2024)  4 - p. 1205-1215 , 2024
Link: https://doi.org/10.1038/..
 
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2

Unbiased phenotype and genotype matching maximizes gene dis..:

Rips, Jonathan ; Halstuk, Orli ; Fuchs, Adina...
Genetics in Medicine.  26 (2024)  4 - p. 101068 , 2024
Link: https://doi.org/10.1016/..
 
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3

A loss-of-function mutation in human Oxidation Resistance 1..:

Lin, Xiaolin ; Wang, Wei ; Yang, Mingyi...
Genome Biology.  24 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, James ; Huebner, Antje K ; Liebmann, Lutz...
Brain.  146 (2023)  11 - p. 4547-4561 , 2023
Link: https://doi.org/10.1093/..
 
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5

Glycogen Storage Disease type IA refractory to cornstarch: ..:

Steg Saban, Or ; Pode-Shakked, Ben ; Abu-Libdeh, Bassam...
European Journal of Medical Genetics.  65 (2022)  6 - p. 104518 , 2022
Link: https://doi.org/10.1016/..
 
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6

RECON syndrome is a genome instability disorder caused by m..:

Abu-Libdeh, Bassam ; Jhujh, Satpal S. ; Dhar, Srijita...
Journal of Clinical Investigation.  132 (2022)  5 - p. , 2022
Link: https://doi.org/10.1172/..
 
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7

Replicative Stress Coincides with Impaired Nuclear DNA Dama..:

Douiev, Liza ; Miller, Chaya ; Keller, Guy...
International Journal of Molecular Sciences.  23 (2022)  8 - p. 4149 , 2022
Link: https://doi.org/10.3390/..
 
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8

Orbital nodular fasciitis in child with biallelic germline ..:

Rips, Jonathan ; Abu-Libdeh, Bassam ; Koplewitz, Benjamin Z....
European Journal of Medical Genetics.  65 (2022)  6 - p. 104513 , 2022
Link: https://doi.org/10.1016/..
 
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9

Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 D..:

Douiev, Liza ; Miller, Chaya ; Ruppo, Shmuel...
Cells.  10 (2021)  2 - p. 452 , 2021
Link: https://doi.org/10.3390/..
 
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10

PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulin..:

Shahroor, Maher A ; Lasorsa, Francesco M ; Porcelli, Vito...
The Journal of Clinical Endocrinology & Metabolism.  107 (2021)  5 - p. 1346-1356 , 2021
Link: https://doi.org/10.1210/..
 
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11

Homozygous variant in MADD, encoding a Rab guanine nucleoti..:

Abu-Libdeh, Bassam ; Mor-Shaked, Hagar ; Atawna, Amir A....
European Journal of Human Genetics.  29 (2021)  6 - p. 977-987 , 2021
Link: https://doi.org/10.1038/..
 
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12

A novel variant of the human mitochondrial DnaJ protein, Ti..:

Patra, Malay ; Weiss, Celeste ; Abu-Libdeh, Bassam...
European Journal of Human Genetics.  27 (2019)  7 - p. 1072-1080 , 2019
Link: https://doi.org/10.1038/..
 
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13

Homozygous frameshift variant in NTNG2, encoding a synaptic..:

Abu-Libdeh, Bassam ; Ashhab, Motee ; Shahrour, Maher...
neurogenetics.  20 (2019)  4 - p. 209-213 , 2019
Link: https://doi.org/10.1007/..
 
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14

Growth Hormone Deficiency in Congenital Toxoplasmosis:

Natsheh, Juma ; Abu-Libdeh, Bassam ; Abu-Libdeh, Abdulsalam
Journal of Child Science.  8 (2018)  1 - p. e43-e45 , 2018
Link: https://doi.org/10.1055/..
 
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15

Cytochrome c oxidase deficiency, oxidative stress, possible..:

Douiev, Liza ; Abu-Libdeh, Bassam ; Saada, Ann
European Journal of Human Genetics.  26 (2018)  4 - p. 579-581 , 2018
Link: https://doi.org/10.1038/..
 
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