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1 . Academic Journal
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene
저자
by
Hertecant, Jozef L.
;
Ben-Rebeh, Imen
;
Marah, Muhaned A.
;
Abbas, Thikra
;
Ayadi, Leila
, et al.
소스
In
European Journal of Medical Genetics
December 2012 55(12):671-676
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7 . Academic Journal
Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy.
저자
by
Abbasi‐Moheb, Lia
;
Westenberger, Ana
;
Alotaibi, Maha
;
Alghamdi, Malak Ali
;
Hertecant, Jozef L.
, et al.
소스
Clinical Genetics
. Apr2021, Vol. 99 Issue 4, p513-518. 6p.
Web of Science
Scopus
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7 . Book
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014).
저자
by
Al-Jasmi, Fatma A.
;
Al-Shamsi, Aisha
;
Hertecant, Jozef L.
;
Al-Hamad, Sania M.
;
Souid, Abdul-Kader
.
소스
JIMD Reports, Volume 28; 2016, p127-135, 9p
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7 . Academic Journal
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
저자
by
Al-Shamsi, Aisha
;
Hertecant, Jozef L.
;
Souid, Abdul-Kader
;
Al-Jasmi, Fatma A.
.
소스
Orphanet Journal of Rare Diseases
. 7/8/2016, Vol. 11, p1-11. 11p.
Open Access (BioMed Central)
Web of Science
Scopus
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6 . Academic Journal
Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy
저자
by
Baertling, Fabian
;
van den Brand, Mariel A.M.
;
Hertecant, Jozef L.
;
Al-Shamsi, Aisha
;
van den Heuvel, Lambert P.
, et al.
소스
Human Mutation
. Jan 01, 2015 36(1):34-38
Web of Science
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7 . Book
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates.
저자
by
Al-Jasmi, Fatma A.
;
Tawfig, Nafisa
;
Berniah, Ans
;
Ali, Bassam R.
;
Taleb, Mahmoud
, et al.
소스
JIMD Reports - Volume 10; 2013, p1-9, 9p
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7 . Academic Journal
Can untreated PKU patients escape from intellectual disability? A systematic review
저자
by
van Vliet, Danique
;
van Wegberg, Annemiek M. J.
;
Ahring, Kirsten
;
Bik-Multanowski, Miroslaw
;
Blau, Nenad
, et al.
소스
ORPHANET JOURNAL OF RARE DISEASES
; AUG 29 2018, 13 p149 6p.
Open Access (BioMed Central)
Scopus
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7 . Academic Journal
Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia
저자
by
Below, Jennifer E.
;
Earl, Dawn L.
;
Shively, Kathryn M.
;
McMillin, Margaret J.
;
Smith, Joshua D.
, et al.
소스
American Journal of Human Genetics
. Jan2013, Vol. 92 Issue 1, p137-143. 7p.
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
저자
by
van Vliet, Danique
;
van Wegberg, Annemiek M.J.
;
Ahring, Kirsten
;
Bik-Multanowski, Miroslaw
;
Casas, Kari
, et al.
소스
Nutrients; Nov2019, Vol. 11 Issue 11, p2572, 1p
Web of Science
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7 . Academic Journal
Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population
저자
by
Ben-Rebeh, Imen
;
Hertecant, Jozef L.
;
Al-Jasmi, Fatma A.
;
Aburawi, Hanan E.
;
Al-Yahyaee, Said A.
, et al.
소스
GENETIC TESTING AND MOLECULAR BIOMARKERS
; MAY 2012, 16 5, p366-p371, 6p.
Scopus
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