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Al Tuwaijri, Abeer
54  Ergebnisse:
Personensuche X
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1

A novel homozygous splice site variant in the CLCN7 causes ..:

Klaab, Zeinab ; Tuwaijri, Abeer Al ; Umair, Muhammad..
Journal of King Saud University - Science.  35 (2023)  1 - p. 102377 , 2023
Link: https://doi.org/10.1016/..
 
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2

A Patient with Coarse Facial Features and Molecular Odyssey..:

Alfadhel, Majid ; Umair, Muhammad ; Al Tuwaijri, Abeer.
Clinical Chemistry.  69 (2023)  1 - p. 17-20 , 2023
Link: https://doi.org/10.1093/..
 
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3

The diagnostic yield of CGH and WES in neurodevelopmental d..:

Alotibi, Raniah S. ; Sannan, Naif S. ; AlEissa, Mariam...
Frontiers in Pediatrics.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

Identification of novel interacts partners of ADAR1 enzyme ..:

Binothman, Najat ; Aljadani, Majidah ; Alghanem, Bandar...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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5

Non-invasive prenatal testing for autosomal recessive disor..:

Alyafee, Yusra ; Al Tuwaijri, Abeer ; Umair, Muhammad...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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6

Novel homozygous pathogenic mitochondrial DNAJC19 variant i..:

Al Tuwaijri, Abeer ; Alyafee, Yusra ; Alharbi, Mashael...
Molecular Genetics & Genomic Medicine.  10 (2022)  8 - p. , 2022
Link: https://doi.org/10.1002/..
 
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7

Congenital disorder of glycosylation with defective fucosyl..:

Al Tuwaijri, Abeer ; Alyafee, Yusra ; Umair, Muhammad...
Molecular Genetics & Genomic Medicine.  11 (2022)  4 - p. , 2022
Link: https://doi.org/10.1002/..
 
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8

PheroxyPyrabenz and Carbopyrropyridin against major protein..:

Rafeeq, Misbahuddin M. ; Nahhas, Alaa F. ; Binothman, Najat...
Journal of Biomolecular Structure and Dynamics.  41 (2022)  18 - p. 9121-9133 , 2022
Link: https://doi.org/10.1080/..
 
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9

Case Report: Bi-allelic missense variant in the desmocollin..:

Al Hawsawi, Khalid ; Al Jabri, Mazin ; Dajam, Mazen S....
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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10

Pancytopenia, Recurrent Infection, Poor Wound Healing, Hete..:

Asiri, Abdulaziz ; Alwadaani, Deemah ; Umair, Muhammad...
Genes.  12 (2021)  2 - p. 294 , 2021
Link: https://doi.org/10.3390/..
 
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11

Mutated VWA8 Is Associated With Developmental Delay, Microc..:

Umair, Muhammad ; Farooq Khan, Muhammad ; Aldrees, Mohammed...
Frontiers in Cell and Developmental Biology.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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12

Next-Generation Sequencing-Based Pre-Implantation Genetic T..:

Alyafee, Yusra ; Alam, Qamre ; Tuwaijri, Abeer Al...
Genes.  12 (2021)  4 - p. 461 , 2021
Link: https://doi.org/10.3390/..
 
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13

Next Generation Sequencing Based Non-invasive Prenatal Test..:

Alyafee, Yusra ; Al Tuwaijri, Abeer ; Alam, Qamre...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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14

Mutated RAP1GDS1 causes a new syndrome of dysmorphic featur..:

Asiri, Abdulaziz ; Aloyouni, Essra ; Umair, Muhammad...
Annals of Clinical and Translational Neurology.  7 (2020)  6 - p. 956-964 , 2020
Link: https://doi.org/10.1002/..
 
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15

EMC10 homozygous variant identified in a family with global..:

Umair, Muhammad ; Ballow, Mariam ; Asiri, Abdulaziz...
Clinical Genetics.  98 (2020)  6 - p. 555-561 , 2020
Link: https://doi.org/10.1111/..
 
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