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/vufind/Search/Results?lookfor=%22Al+Tuwaijri%2C+Abeer%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Al+Tuwaijri%2C+Abeer%22&type=Person&sort=year
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PubPharm (37)
1
Identification of novel interacts partners of ADAR1 enzyme mediating the oncogenic process in aggressive breast cancer
enthalten in:
Scientific reports
| 2023
von
Binothman, N.
|
Aljadani, M.
|
Alghanem, B.
| +12
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2
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect) : The third report in the literature with a mild phenotype
enthalten in:
Molecular genetics & genomic medicine
| 2023
von
Al Tuwaijri, A.
|
Alyafee, Y.
|
Umair, M.
| +9
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3
A Patient with Coarse Facial Features and Molecular Odyssey : Lessons Learned and Best Practice
enthalten in:
Clinical chemistry
| 2023
von
Alfadhel, M.
|
Umair, M.
|
Al Tuwaijri, A.
| +1
CommentIn: Clin Chem. 2023 Jan 4;69(1):21. - PMID 36598550
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4
The diagnostic yield of CGH and WES in neurodevelopmental disorders
enthalten in:
Frontiers in pediatrics
| 2023
von
Alotibi, R.
|
Sannan, N.
|
AlEissa, M.
| +10
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5
Congenital disorder of glycosylation with defective fucosylation 2 ( FCSK gene defect) : The third report in the literature with a mild phenotype
enthalten in:
Molecular Genetics & Genomic Medicine
| 2023
von
Al Tuwaijri, A.
|
Alyafee, Y.
|
Umair, M.
| +9
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6
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay
enthalten in:
Molecular genetics & genomic medicine
| 2022
von
Al Tuwaijri, A.
|
Alyafee, Y.
|
Alharbi, M.
| +6
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7
Case Report : Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
enthalten in:
Frontiers in genetics
| 2022
von
Al Hawsawi, K.
|
Al Jabri, M.
|
Dajam, M.
| +7
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8
Blockade of p38 MAPK overcomes AML stem cell line KG1a resistance to 5-Fluorouridine and the impact on miRNA profiling
enthalten in:
PloS one
| 2022
von
Matou-Nasri, S.
|
Najdi, M.
|
AlSaud, N.
| +9
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9
Non-invasive prenatal testing for autosomal recessive disorders : A new promising approach
enthalten in:
Frontiers in genetics
| 2022
von
Alyafee, Y.
|
Al Tuwaijri, A.
|
Umair, M.
| +11
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10
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay
enthalten in:
Molecular Genetics & Genomic Medicine
| 2022
von
Al Tuwaijri, A.
|
Alyafee, Y.
|
Alharbi, M.
| +6
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37
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Human genetics <Berlin>
5
Human genetics
3
Biology of sex differences
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The journal of pediatric endocrinology and meta...
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Scientific reports
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Thema
19
Journal Article
11
Research Support, Non-U.S. Gov't
6
Membrane Proteins
6
Methylation Level
5
Asthma
5
Case Reports
5
Egg Proteins
5
ZPBP2 protein, human
3
Allelic Effect
3
Average Methylation Level
3
CTCF Site
3
DNA methylation
3
JEG3 Cell
3
MG63 Cell
3
Methylation Assay
3
Neoplasm Proteins
3
Nucleosome Occupancy
3
Sex
3
X chromosome
3
Y chromosome
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Erscheinungszeitraum
17
2020-
20
2010-2019
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Sprache
32
Englisch
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