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1 . Academic Journal
Hypospadias in ring X syndrome
저자
by
Elghezal, Hatem
;
Alfayez, Khowla
;
Ben Abdallah, Inesse
;
Alfares, Ahmed
;
Almazyad, Ayesh
, et al.
소스
In
European Journal of Medical Genetics
July 2021 64(7)
Full Text (Clinical Key)
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7 . Academic Journal
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases
저자
by
Saskin, Avi
;
Alfares, Ahmed
;
Bernard, Chantal
;
Blumenkrantz, Miriam
;
Braverman, Nancy
, et al.
소스
In
European Journal of Medical Genetics
April 2019 62(4):254-258
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7 . Academic Journal
Prospect of genetic disorders in Saudi Arabia.
저자
by
Alqahtani, Amerh S.
;
Alotibi, Raniah S.
;
Aloraini, Taghrid
;
Almsned, Fahad
;
Alassali, Yara
, et al.
소스
Frontiers in Genetics; 2023, p1-8, 8p
Web of Science
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7 .
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimic
저자
by
Shirah, Bader
;
Algahtani, Hussein
;
Algahtani, Raghad
;
Alfares, Ahmed
;
Hassan, Ahmed
.
소스
In
Journal of Stroke and Cerebrovascular Diseases
August 2023 32(8)
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7 . Academic Journal
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.
저자
by
Alfadhel, Majid
;
Abadel, Basma
;
Almaghthawi, Hind
;
Umair, Muhammad
;
Rahbeeni, Zuhair
, et al.
소스
Frontiers in Genetics; 5/13/2022, Vol. 13, p1-8, 8p
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7 . Academic Journal
Untargeted metabolomics reveals novel biomarkers and altered pathways in maple syrup urine disease: A noninvasive approach for early diagnosis in newborns".
저자
by
Alodaib, Ahmad
;
Alotaibi, Abeer
;
AlMalki, Reem
;
Almogren, Maha
;
Sebaa, Rajaa
, et al.
소스
Molecular Genetics & Metabolism
. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.
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7 . Academic Journal
Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia.
저자
by
Khan, Adbul Rafiq
;
Alothaim, Ali
;
Alfares, Ahmed
;
Jowed, Adil
;
Al Enazi, Souad Marwan
, et al.
소스
Annals of Saudi Medicine; Mar/Apr2022, Vol. 42 Issue 2, p107-118, 12p
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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 . Academic Journal
Common disease-associated gene variants in a Saudi Arabian population.
저자
by
Aleissa, Mariam
;
Aloraini, Taghrid
;
Alsubaie, Lamia Fahad
;
Hassoun, Madawi
;
Abdulrahman, Ghada
, et al.
소스
Annals of Saudi Medicine; Jan/Feb2022, Vol. 42 Issue 1, p29-35, 7p
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7 . Academic Journal
Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family.
저자
by
Babiker, Amir
;
Al Noaim, Khalid
;
Al Swaid, Abdulrahman
;
Alfadhel, Majid
;
Deeb, Asma
, et al.
소스
Clinical Genetics
. Nov2021, Vol. 100 Issue 5, p601-606. 6p.
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