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1 . Academic Journal
A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis
저자
by
Miao Sun
;
Cornelia K. Kaminsky
;
Philip Deppe
;
Mai-Britt Ilse
;
Frédéric M. Vaz
, et al.
소스
Genes and Diseases, Vol 11, Iss 3, Pp 101025- (2024)
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7 . Academic Journal
When moments matter: Finding answers with rapid exome sequencing
저자
by
Zöe Powis
;
Kelly D. Farwell Hagman
;
Kirsten Blanco
;
Margaret Au
;
John M. Graham
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Open Access (Wiley)
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7 . Academic Journal
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 2 approved]
저자
by
Katrina Tatton-Brown
;
Anna Zachariou
;
Chey Loveday
;
Anthony Renwick
;
Shazia Mahamdallie
, et al.
소스
Wellcome Open Research, Vol 3 (2018)
Open Access (DOAJ)
Scopus
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7 .
Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care
저자
by
Cynthia L. Gong
;
Leah Yieh
;
Joel W. Hay
;
Linda M. Randolph
;
S. Crawford
.
소스
Genetics in Medicine
. 23:1854-1863
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7 .
Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy
저자
by
Kenneth W. Martin
;
Paula Garcia
;
Howard Rosenfeld
;
Dawn Phillips
;
Paul Harmatz
, et al.
소스
Molecular Genetics and Metabolism
. 133:100-108
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7 .
Psychiatric Symptoms Associated with Inborn Errors of Metabolism
저자
by
Derek Wong
;
Susan Beckwitt Turkel
;
Linda M. Randolph
.
소스
SN Comprehensive Clinical Medicine
. 2:1646-1660
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5 .
Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management
저자
by
Jennifer M. Kalish
;
N. Scott Adzick
;
Anita E. Beck
;
Emilie Lalonde
;
Arupa Ganguly
, et al.
소스
Genet Med
Open Access (OpenAIRE)
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7 .
Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation
저자
by
Linda M. Randolph
;
Choo Ng
;
S Akhtar Ali
;
Pisit Pitukcheewanont
;
Jodie K. Votava-Smith
.
소스
Osteoporosis International
. 29:2575-2579
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7 .
Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning
저자
by
Mimi S. Kim
;
Veeraya K Tanawattanacharoen
;
Hengameh Mirzaalian
;
Xiao Guo
;
Linda M. Randolph
, et al.
소스
JAMA Network Open
Open Access (OpenAIRE)
Scopus
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7 .
Long-term outcomes of patients with mucopolysaccharidosis type VI treated with galsulfase enzyme replacement therapy since infancy
저자
by
JoAnn Johnson
;
Paula Garcia
;
Kenneth Martin
;
Linda M. Randolph
;
Howard Rosenfeld
, et al.
소스
Molecular Genetics and Metabolism
. 132:S52-S53
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