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1 . Academic Journal
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency
저자
by
Parith Wongkittichote
;
Sanmati R. Cuddapah
;
Stephen R. Master
;
Dorothy K. Grange
;
Dennis Dietzen
, et al.
소스
JIMD Reports, Vol 64, Iss 5, Pp 367-374 (2023)
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7 . Academic Journal
Postmortem diagnosis of very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death
저자
by
Prapti Singh
;
Deirdre Amaro
;
Olugbemisola Obi
;
FNU Kiran
;
Erin Hediger
, et al.
소스
JIMD Reports, Vol 64, Iss 4, Pp 261-264 (2023)
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7 . Academic Journal
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
저자
by
Salima El Chehadeh
;
Kyung Ah Han
;
Dongwook Kim
;
Gyubin Jang
;
Somayeh Bakhtiari
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
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7 . Academic Journal
A Unique High‐Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome
저자
by
Gautam K. Singh
;
Conor McClenaghan
;
Manish Aggarwal
;
Hongjie Gu
;
Maria S. Remedi
, et al.
소스
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 24 (2022)
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7 . Academic Journal
Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia
저자
by
Holm Schneider
;
Smail Hadj-Rabia
;
Florian Faschingbauer
;
Christine Bodemer
;
Dorothy K. Grange
, et al.
소스
Genes, Vol 14, Iss 1, p 153 (2023)
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7 . Academic Journal
Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report
저자
by
Parith Wongkittichote
;
James R. Watson
;
Jennifer M. Leonard
;
Elizabeth R. Toolan
;
Patricia I. Dickson
, et al.
소스
JIMD Reports, Vol 56, Iss 1, Pp 40-45 (2020)
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7 . Academic Journal
Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia
저자
by
Christopher Markham
;
Caroline Williams
;
Cory Miller
;
Dorothy K. Grange
;
T. Keefe Davis
, et al.
소스
Frontiers in Pediatrics, Vol 9 (2021)
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7 . Academic Journal
Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome
저자
by
Nathaniel W. York
;
Helen Parker
;
Zili Xie
;
David Tyus
;
Maham Akbar Waheed
, et al.
소스
JCI Insight, Vol 5, Iss 23 (2020)
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7 . Academic Journal
Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria
저자
by
Zoë Hawks
;
Joshua Shimony
;
Jerrel Rutlin
;
Dorothy K. Grange
;
Shawn E. Christ
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 8-13 (2017)
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7 . Academic Journal
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
저자
by
Bret L. Bostwick
;
Scott McLean
;
Jennifer E. Posey
;
Haley E. Streff
;
Karen W. Gripp
, et al.
소스
Genome Medicine, Vol 9, Iss 1, Pp 1-9 (2017)
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