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Grace Rabie
Observed names:
Grace N Rabie,
Rabie, Grace
Institution:
Bethlehem University
Observed institution:
Bethlehem University
ORCID:
0000-0003-0613-7086
Observed ORCID:
0000-0003-0613-7086
OpenAlex ID:
A5025145819
Genomic analysis of inherited hearing loss in the Palestinian population
2020
·
Amal Abu Rayyan
, Lara Kamal
, et al.
·
Proceedings of the National Academy of Sciences
·
66
PDF
Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis
2021
·
Ari Elson
, Merle Stein
, et al.
·
Frontiers in Cell and Developmental Biology
·
16
PDF
Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities
2020
·
Lara Kamal
, Sarah B. Pierce
, et al.
·
Molecular Case Studies
·
9
PDF
TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers
2024
·
Suhair Lolas-Hamameh
, Sari Lieberman
, et al.
·
JNCI Journal of the National Cancer Institute
·
7
PDF
Using multi-scale genomics to associate poorly annotated genes with rare diseases
2024
·
Christina Canavati
, Dana Sherill-Rofe
, et al.
·
Genome Medicine
·
7
PDF
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome
2026
·
Valentina Serpieri
, Myriam Vezain-Mouchard
, et al.
·
The American Journal of Human Genetics
·
1
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss
2023
·
Amal Aburayyan
, Ryan J Carlson
, et al.
·
Human Molecular Genetics
·
1
PDF
A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorder
2026
·
Christina Canavati
, Motee Ashhab
, et al.
·
BMC Medical Genomics
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking
2026
·
Pilar Chacon-Millan
, Antonella Delicato
, et al.
·
The American Journal of Human Genetics
Additional file 1 of Using multi-scale genomics to associate poorly annotated genes with rare diseases
2024
·
Canavati, Christina
, Sherill-Rofe, Dana
, et al.
·
Figshare
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Works count:
12
Citation count:
107
H-index:
5
I10-index:
2
Year
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