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1 . Academic Journal
The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening
저자
by
Isaac Bernhardt
;
Emma Glamuzina
;
Bryony Ryder
;
Detlef Knoll
;
Natasha Heather
, et al.
소스
JIMD Reports, Vol 64, Iss 2, Pp 180-186 (2023)
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7 . Academic Journal
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
저자
by
Antti Tallgren
;
Leo Kager
;
Gina O’Grady
;
Hannu Tuominen
;
Jarmo Körkkö
, et al.
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Frontiers in Neuroscience, Vol 17 (2023)
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7 . Academic Journal
Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations
저자
by
Isaac Bernhardt
;
Emma Glamuzina
;
Leah K. Dowsett
;
Dianne Webster
;
Detlef Knoll
, et al.
소스
JIMD Reports, Vol 63, Iss 4, Pp 322-329 (2022)
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7 . Academic Journal
Preparation of elastomeric nanocomposites using nanocellulose and recycled alum sludge for flexible dielectric materials
저자
by
Dongyang Sun
;
Bernard L. H. Saw
;
Amaka J. Onyianta
;
Bowen Wang
;
Callum Wilson
, et al.
소스
Journal of Advanced Dielectrics, Vol 13, Iss 01 (2023)
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7 . Academic Journal
Intellectual functioning in alpha‐mannosidosis
저자
by
Sara S. Cathey
;
Sara M. Sarasua
;
Richard Simensen
;
Katie Pietris
;
Gordon Kimbrell
, et al.
소스
JIMD Reports, Vol 50, Iss 1, Pp 44-49 (2019)
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7 . Academic Journal
Can untreated PKU patients escape from intellectual disability? A systematic review
저자
by
Danique van Vliet
;
Annemiek M. J. van Wegberg
;
Kirsten Ahring
;
Miroslaw Bik-Multanowski
;
Nenad Blau
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
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7 . Academic Journal
Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans
저자
by
Alexander T. Young
;
Kien N. Ly
;
Callum Wilson
;
Klaus Lehnert
;
Russell G. Snell
, et al.
소스
Disease Models & Mechanisms, Vol 11, Iss 11 (2018)
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7 . Academic Journal
Classifying Intelligence in Machines: A Taxonomy of Intelligent Control
저자
by
Callum Wilson
;
Francesco Marchetti
;
Marilena Di Carlo
;
Annalisa Riccardi
;
Edmondo Minisci
.
소스
Robotics, Vol 9, Iss 3, p 64 (2020)
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7 . Academic Journal
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
저자
by
Danique van Vliet
;
Annemiek M.J. van Wegberg
;
Kirsten Ahring
;
Miroslaw Bik-Multanowski
;
Kari Casas
, et al.
소스
Nutrients, Vol 11, Iss 11, p 2572 (2019)
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7 . Academic Journal
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
저자
by
Jessie C. Jacobsen
;
Emma Glamuzina
;
Juliet Taylor
;
Brendan Swan
;
Shona Handisides
, et al.
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Case Reports in Genetics, Vol 2015 (2015)
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