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1 . Academic Journal
Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex
저자
by
Qifei Li
;
Jasmine Lin
;
Shiyu Luo
;
Klaus Schmitz‐Abe
;
Rohan Agrawal
, et al.
소스
Journal of Cachexia, Sarcopenia and Muscle, Vol 15, Iss 3, Pp 1003-1015 (2024)
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7 . Academic Journal
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene
저자
by
Afaf Alsubhi
;
Manar Aldarwish
;
Pankaj B. Agrawal
;
Saeed M. Al Tala
;
Osama Eldadah
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101027- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine ProductionSummary
저자
by
Amy E. O’Connell
;
Sathuwarman Raveenthiraraj
;
Luiz Fernando Silva Oliveira
;
Comfort Adegboye
;
Venkata Siva Dasuri
, et al.
소스
Cellular and Molecular Gastroenterology and Hepatology, Vol 18, Iss 2, Pp 101349- (2024)
Full Text (Clinical Key)
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7 . Academic Journal
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
저자
by
Carolina Gracia-Diaz
;
Yijing Zhou
;
Qian Yang
;
Reza Maroofian
;
Paula Espana-Bonilla
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
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7 . Academic Journal
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
저자
by
Frances O. Flanagan
;
Alexander M. Holtz
;
Sara O. Vargas
;
Casie A. Genetti
;
Klaus Schmitz-Abe
, et al.
소스
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-5 (2023)
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7 . Academic Journal
Integrating rapid exome sequencing into NICU clinical care after a pilot research study
저자
by
Alissa M. D’Gama
;
Maya C. Del Rosario
;
Mairead A. Bresnahan
;
Timothy W. Yu
;
Monica H. Wojcik
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
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7 . Academic Journal
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort
저자
by
Elicia Estrella
;
Shira Rockowitz
;
Marielle Thorne
;
Pressley Smith
;
Jeanette Petit
, et al.
소스
Advanced Genetics, Vol 4, Iss 1, Pp n/a-n/a (2023)
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7 . Academic Journal
The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children
저자
by
Mehdi Benamar
;
Qian Chen
;
Janet Chou
;
Amélie M. Julé
;
Rafik Boudra
, et al.
소스
The Journal of Clinical Investigation, Vol 133, Iss 1 (2023)
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7 . Academic Journal
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
저자
by
Francisco M. De La Vega
;
Shimul Chowdhury
;
Barry Moore
;
Erwin Frise
;
Jeanette McCarthy
, et al.
소스
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
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7 . Academic Journal
Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model
저자
by
Qifei Li
;
Jasmine Lin
;
Jeffrey J. Widrick
;
Shiyu Luo
;
Gu Li
, et al.
소스
JCI Insight, Vol 7, Iss 15 (2022)
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