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Al‐Swaid, Abdulrahman
69  Ergebnisse:
Personensuche X
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1

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia...
Brain.  147 (2023)  4 - p. 1436-1456 , 2023
Link: https://doi.org/10.1093/..
 
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2

AXIN1 bi-allelic variants disrupting the C-terminal DIX dom..:

Terhal, Paulien ; Venhuizen, Anton J. ; Lessel, Davor...
The American Journal of Human Genetics.  110 (2023)  9 - p. 1470-1481 , 2023
Link: https://doi.org/10.1016/..
 
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3

The variant artificial intelligence easy scoring (VARIES) s..:

Aloraini, Taghrid ; Aljouie, Abdulrhman ; Alniwaider, Rashed...
Computers in Biology and Medicine.  145 (2022)  - p. 105492 , 2022
Link: https://doi.org/10.1016/..
 
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4

The rate of secondary genomic findings in the Saudi populat..:

Aloraini, Taghrid ; Alsubaie, Lamia ; Alasker, Sarah...
American Journal of Medical Genetics Part A.  188 (2021)  1 - p. 83-88 , 2021
Link: https://doi.org/10.1002/..
 
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5

The genotypic and phenotypic spectrum of pycnodysostosis in..:

Mushiba, Aziza M. ; FAQEIH E A Faqeih, EISSA ; Saleh, Mohammed A....
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2455-2463 , 2021
Link: https://doi.org/10.1002/..
 
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6

Long-term effectiveness of carglumic acid in patients with ..:

Alfadhel, Majid ; Nashabat, Marwan ; Saleh, Mohammed...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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7

Incidental discovery of an interstitial emphysematous cysti..:

Rajih, Emad ; Sayed A, Ayman ; Mahrous, Sarah...
Urology Case Reports.  31 (2020)  - p. 101134 , 2020
Link: https://doi.org/10.1016/..
 
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8

What is the right sequencing approach? Solo VS extended fam..:

Alfares, Ahmed ; Alsubaie, Lamia ; Aloraini, Taghrid...
BMC Medical Genomics.  13 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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9

Biallelic loss-of-function variants in NEMF cause central n..:

Ahmed, Ashfaque ; Wang, Meng ; Bergant, Gaber...
Human Genetics.  140 (2020)  4 - p. 579-592 , 2020
Link: https://doi.org/10.1007/..
 
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10

Evaluation of long-term effectiveness of the use of carglum..:

Nashabat, Marwan ; Obaid, Abdulrahman ; Al Mutairi, Fuad...
BMC Pediatrics.  19 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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11

Tetrasomy 18p: case report and review of literature:

Bawazeer, Shahad ; Alshalan, Maha ; Alkhaldi, Azizah...
The Application of Clinical Genetics.  11 (2018)  - p. 9-14 , 2018
Link: https://doi.org/10.2147/..
 
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12

The many faces of peroxisomal disorders: Lessons from a lar..:

Alshenaifi, Jumanah ; Ewida, Nour ; Anazi, Shams...
Clinical Genetics.  95 (2018)  2 - p. 310-319 , 2018
Link: https://doi.org/10.1111/..
 
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13

Whole-genome sequencing offers additional but limited clini..:

Alfares, Ahmed ; Aloraini, Taghrid ; subaie, Lamia Al...
Genetics in Medicine.  20 (2018)  11 - p. 1328-1333 , 2018
Link: https://doi.org/10.1038/..
 
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14

Autosomal recessive Noonan syndrome associated with biallel..:

Johnston, Jennifer J. ; van der Smagt, Jasper J. ; Rosenfeld, Jill A....
Genetics in Medicine.  20 (2018)  10 - p. 1175-1185 , 2018
Link: https://doi.org/10.1038/..
 
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15

Recurrent variants in OTOF are significant contributors to ..:

Almontashiri, Naif A.M. ; Alswaid, Abdulrahman ; Oza, Andrea...
Genetics in Medicine.  20 (2018)  5 - p. 536-544 , 2018
Link: https://doi.org/10.1038/..
 
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