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1 . Academic Journal
Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression
저자
by
Jordan Kho
;
Urszula Polak
;
Ming-Ming Jiang
;
John D. Odom
;
Jill V. Hunter
, et al.
소스
JCI Insight, Vol 8, Iss 17 (2023)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance
저자
by
Bridget M. Stroup
;
Xiaohui Li
;
Sara Ho
;
Haonan Zhouyao
;
Yuqing Chen
, et al.
소스
Disease Models & Mechanisms, Vol 16, Iss 8 (2023)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data
저자
by
Lillian R. Thistlethwaite
;
Xiqi Li
;
Lindsay C. Burrage
;
Kevin Riehle
;
Joseph G. Hacia
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-17 (2022)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
저자
by
Beryl Royer-Bertrand
;
Marine Jequier Gygax
;
Katarina Cisarova
;
Jill A. Rosenfeld
;
Jennifer A. Bassetti
, et al.
소스
Molecular Autism, Vol 12, Iss 1, Pp 1-11 (2021)
Open Access (BioMed Central)
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7 . Academic Journal
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
저자
by
Josefina Longeri Contreras
;
Mabel A. Ladino
;
Katherine Aránguiz
;
Gonzalo P. Mendez
;
Zeynep Coban-Akdemir
, et al.
소스
Frontiers in Pediatrics, Vol 9 (2021)
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7 . Academic Journal
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing
저자
by
Runjun D. Kumar
;
Lindsay C. Burrage
;
Jan Bartos
;
Saima Ali
;
Eric Schmitt
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100706- (2021)
Full Text (ScienceDirect)
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7 . Academic Journal
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
저자
by
Francesco Vetrini
;
Shane McKee
;
Jill A. Rosenfeld
;
Mohnish Suri
;
Andrea M. Lewis
, et al.
소스
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
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7 . Academic Journal
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network
저자
by
Heidi Cope
;
Rebecca Spillmann
;
Jill A. Rosenfeld
;
Elly Brokamp
;
Rebecca Signer
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Open Access (Wiley)
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7 . Academic Journal
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
저자
by
Mohammad K. Eldomery
;
Zeynep C. Akdemir
;
F.-Nora Vögtle
;
Wu-Lin Charng
;
Patrycja Mulica
, et al.
소스
Genome Medicine, Vol 8, Iss 1, Pp 1-13 (2016)
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7 . Academic Journal
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
저자
by
Francesco Vetrini
;
Shane McKee
;
Jill A. Rosenfeld
;
Mohnish Suri
;
Andrea M. Lewis
, et al.
소스
Genome Medicine, Vol 11, Iss 1, Pp 1-2 (2019)
Open Access (BioMed Central)
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