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1 .
Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series
저자
by
Rockman-Greenberg, Cheryl
;
Josse, Robert
;
Francis, Mira
;
Mhanni, Aziz
.
소스
In
Bone Reports
December 2022 17
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6 . Academic Journal
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
저자
by
Sleiman, Sophie
;
Marshall, Aren E
;
Dong, Xiaomin
;
Mhanni, Aziz
;
Alidou-D'Anjou, Ismaël
, et al.
소스
Human Molecular Genetics; 2/15/2022, Vol. 31 Issue 4, p614-624, 11p
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7 . Academic Journal
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
저자
by
Dawson, Angelika J.
;
Hovanes, Karine
;
Liu, Jing
;
Marles, Sandra
;
Greenberg, Cheryl
, et al.
소스
Clinical Dysmorphology
. Oct 07, 2020
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7 . Academic Journal
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.
저자
by
Al Shamsi, Aisha
;
Al Hassani, Noura
;
Hamchou, Moustafa
;
Almazrouei, Raya
;
Mhanni, Aziz
.
소스
Molecular Genetics & Genomic Medicine
. Nov2020, Vol. 8 Issue 11, p1-7. 7p.
Open Access (Wiley)
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7 . Academic Journal
A case of severe Menkes disease: Importance of laboratory testing for an elevated urinary HVA/VMA ratio
저자
by
Stevic, Ivan
;
Szelemej, Paul
;
Hartley, Jessica
;
Mhanni, Aziz
;
Greenberg, Cheryl R.
, et al.
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Clinical Biochemistry
October 2015 48(15):1018-1019
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7 . Academic Journal
The epidemiology and health service impact of medium-chain acyl-CoA dehydrogenase deficiency among affected children and those with false positive newborn screening results in Ontario
저자
by
Karaceper, Maria D.
;
Brownell, Marni
;
Casey, Robin
;
Chakraborty, Pranesh
;
Coyle, Doug
, et al.
소스
In
Clinical Biochemistry
October 2014 47(15):132-133
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7 . Academic Journal
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.
저자
by
Dawson, Angelika J.
;
Hovanes, Karine
;
Liu, Jing
;
Marles, Sandra
;
Greenberg, Cheryl
, et al.
소스
Clinical Dysmorphology; Apr2021, Vol. 30 Issue 2, p83-88, 6p
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7 . Academic Journal
Development of a core outcome set for mucopolysaccharidoses (MPS) in children: Results from Delphi surveys and a consensus workshop.
저자
by
Howie, Alison H.
;
Wyatt, Alexandra
;
Inbar-Feigenberg, Michal
;
Mitchell, John J.
;
Smith, Maureen
, et al.
소스
Molecular Genetics & Metabolism
. Feb2023, Vol. 138 Issue 2, pN.PAG-N.PAG. 1p.
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7 . Academic Journal
Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada.
저자
by
Khaper, Tanya
;
Bunge, Martin
;
Clark, Ian
;
Rafay, Mubeen Fatima
;
Mhanni, Aziz
, et al.
소스
Paediatrics & Child Health (1205-7088)
. Dec2017, Vol. 22 Issue 8, p445-453. 9p.
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7 .
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
저자
by
Sixto Garcia Minaur
;
Pankaj B. Agrawal
;
A. Micheil Innes
;
Catherine A. Brownstein
;
David S. Wargowski
, et al.
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Am J Med Genet A
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