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1 . Academic Journal
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
저자
by
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Alfadhel, Majid
;
Alghamdi, Malak Ali
;
Anikster, Yair
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023 139(3)
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7 . Academic Journal
Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia
저자
by
Habib, Anasufiza
;
Azize, Nor Azimah Abdul
;
Rahman, Salina Abd
;
Yakob, Yusnita
;
Suberamaniam, Vengadeshwaran
, et al.
소스
In
Clinical Biochemistry
December 2021 98:48-53
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7 . Academic Journal
Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.
저자
by
Ooi, Joshua Chin Ern
;
Azman, Amelia
;
Chan, Mei‐Yan
;
Toh, Emilia Sheau Yuin
;
Seo, Go Hun
, et al.
소스
Clinical Genetics
. Feb2024, Vol. 105 Issue 2, p228-230. 3p.
Web of Science
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7 . Academic Journal
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
저자
by
Chan, Mei-Yan
;
Jalil, Julaina Abdul
;
Yakob, Yusnita
;
Wahab, Siti Aishah Abdul
;
Ali, Ernie Zuraida
, et al.
소스
Orphanet Journal of Rare Diseases
. 8/4/2023, Vol. 18 Issue 1, p1-11. 11p.
Open Access (BioMed Central)
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7 . Academic Journal
Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.
저자
by
Abdul Wahab, Siti Aishah
;
Yakob, Yusnita
;
Mohd Khalid, Mohd Khairul Nizam
;
Ali, Noraishah
;
Leong, Huey Yin
, et al.
소스
Genetics Research
. 9/13/2022, p1-7. 7p.
Open Access (Wiley)
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7 . Academic Journal
Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia.
저자
by
Mohamed Ibrahim, Norlinah
;
Lau, Yue Hui
;
Ariffin, Noorasyikin
;
Md Desa, Siti Hajar
;
Azizan, Elena
, et al.
소스
Cerebellum & Ataxias; 8/3/2020, Vol. 7 Issue 1, p1-4, 4p
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7 . Academic Journal
Performance comparison of EasyFix G26 and HYDRASYS 2 SCAN for the detection of serum monoclonal proteins.
저자
by
Amin Nordin, Fatimah Diana
;
Mohd Khalid, Mohd Khairul Nizam
;
Abdul Aziz, Siti Mastura
;
Mohamad Bakri, Nor Aina
;
Ahmad Ridzuan, Siti Nurwani
, et al.
소스
Journal of Clinical Laboratory Analysis; Jun2020, Vol. 34 Issue 6, p1-8, 8p
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7 .
Adrenal insufficiency in a child with MELAS syndrome
저자
by
Afroze, Bushra
;
Amjad, Nida
;
Ibrahim, Shahnaz H.
;
Humayun, Khadija Nuzhat
;
Yakob, Yusnita
.
소스
In
Brain and Development
November 2014 36(10):924-927
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7 . Academic Journal
Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.
저자
by
Moey, Lip Hen
;
Abdul Azize, Nor Azimah
;
Yakob, Yusnita
;
Leong, Huey Yin
;
Keng, Wee Teik
, et al.
소스
Pediatrics & Neonatology; Aug2018, Vol. 59 Issue 4, p397-403, 7p
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7 . Periodical
Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation
저자
by
Durrani, Sana
;
Chen, Bee Chin
;
Yakob, Yusnita
;
Hian, Lua Seok
;
Afroze, Bushra
.
소스
Journal of Pediatric Genetics; March 2019, Vol. 8 Issue: 1 p015-019, 5p
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