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1 . Academic Journal
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
저자
by
Terhal, Paulien
;
Venhuizen, Anton J.
;
Lessel, Davor
;
Tan, Wen-Hann
;
Alswaid, Abdulrahman
, et al.
소스
In
The American Journal of Human Genetics
7 September 2023 110(9):1470-1481
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7 . Academic Journal
The rate of secondary genomic findings in the Saudi population.
저자
by
Aloraini, Taghrid
;
Alsubaie, Lamia
;
Alasker, Sarah
;
Al Muitiri, Abdulrahman
;
Alswaid, Abdulrahman
, et al.
소스
American Journal of Medical Genetics. Part A; Jan2022, Vol. 188 Issue 1, p83-88, 6p
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7 .
Incidental discovery of an interstitial emphysematous cystitis with liver abscess: A report of hematogenous spread of infection
저자
by
Rajih, Emad
;
Sayed A, Ayman
;
Mahrous, Sarah
;
Alharthi, Abdullah
;
Alswaid, Abdulrahman
, et al.
소스
In
Urology Case Reports
July 2020 31
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7 . Academic Journal
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
저자
by
Alfadhel, Majid
;
Nashabat, Marwan
;
Saleh, Mohammed
;
Elamin, Mohammed
;
Alfares, Ahmed
, et al.
소스
Orphanet Journal of Rare Diseases
. 10/11/2021, Vol. 16 Issue 1, p1-10. 10p.
Open Access (BioMed Central)
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7 . Academic Journal
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
저자
by
Mushiba, Aziza M.
;
FAQEIH, EISSA
;
Saleh, Mohammed A.
;
Ramzan, Khushnooda
;
Imtiaz, Faiqa
, et al.
소스
American Journal of Medical Genetics. Part A; Aug2021, Vol. 185 Issue 8, p2455-2463, 9p
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7 . Academic Journal
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
저자
by
Ahmed, Ashfaque
;
Wang, Meng
;
Bergant, Gaber
;
Maroofian, Reza
;
Zhao, Rongjuan
, et al.
소스
Human Genetics
. Apr2021, Vol. 140 Issue 4, p579-592. 14p.
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7 . Academic Journal
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
저자
by
Alfares, Ahmed
;
Alsubaie, Lamia
;
Aloraini, Taghrid
;
Alaskar, Aljoharah
;
Althagafi, Azza
, et al.
소스
BMC Medical Genomics
. 7/17/2020, Vol. 13 Issue 1, p1-8. 8p.
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7 . Academic Journal
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.
저자
by
AlGhamdi, Afnan
;
Alrifai, Muhammad Talal
;
Al Hammad, Abdullah I.
;
Al Mutairi, Fuad
;
Alswaid, Abdulrahman
, et al.
소스
Journal of Child Neurology
. Sep2018, Vol. 33 Issue 11, p713-717. 5p.
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7 . Academic Journal
Tetrasomy 18p: case report and review of literature.
저자
by
Bawazeer, Shahad
;
Alshalan, Maha
;
Alkhaldi, Aziza
;
AlAtwi, Nasser
;
AlBalwi, Mohammed
, et al.
소스
Application of Clinical Genetics; Feb2018, Vol. 11, p9-14, 6p
Open Access (T&F)
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7 . Academic Journal
Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot
저자
by
Bhuiyan, Zahurul A.
;
Alswaid, Abdulrahman
;
Belfiore, Marco
;
Al-Ghamdi, Saleh S.
;
Liang, Juno
, et al.
소스
In
International Journal of Cardiology
1 March 2014 172(1):276-277
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