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1 . Academic Journal
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
저자
by
Morales-Romero, Blai
;
Muñoz-Pujol, Gerard
;
Artuch, Rafael
;
García-Cazorla, Angels
;
O'Callaghan, Mar
, et al.
소스
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Molecular Genetics and Metabolism
July 2024 142(3)
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7 . Academic Journal
CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
저자
by
Muñoz‐Pujol, Gerard
;
Ugarteburu, Olatz
;
Segur‐Bailach, Eulàlia
;
Moliner, Sonia
;
Jurado, Susana
, et al.
소스
Journal of Inherited Metabolic Disease; Nov2023, Vol. 46 Issue 6, p1029-1042, 14p
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7 . Academic Journal
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
저자
by
Arrabal, Luisa
;
Muñoz-Pujol, Gerard
;
Medina Martínez, Inmaculada
;
Gort, Laura
;
García-Villoria, Judit
, et al.
소스
International Journal of Molecular Sciences
. Aug2023, Vol. 24 Issue 15, p12319. 12p.
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7 . Academic Journal
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
저자
by
Muñoz‐Pujol, Gerard
;
Ortigoza‐Escobar, Juan D.
;
Paredes‐Fuentes, Abraham J.
;
Jou, Cristina
;
Ugarteburu, Olatz
, et al.
소스
Brain Pathology
. May2023, Vol. 33 Issue 3, p1-13. 13p.
Open Access (Wiley)
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7 . Academic Journal
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
저자
by
Muñoz-Pujol, Gerard
;
Alforja-Castiella, Socorro
;
Casaroli-Marano, Ricardo
;
Morales-Romero, Blai
;
García-Villoria, Judit
, et al.
소스
International Journal of Molecular Sciences
. Oct2022, Vol. 23 Issue 20, p12367-N.PAG. 13p.
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7 . Periodical
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
저자
by
Bullich, Gemma
;
Matalonga, Leslie
;
Pujadas, Montserrat
;
Papakonstantinou, Anastasios
;
Piscia, Davide
, et al.
소스
The Journal of Molecular Diagnostics; May 2022, Vol. 24 Issue: 5 p529-542, 14p
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7 . Academic Journal
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
저자
by
Yépez, Vicente A.
;
Gusic, Mirjana
;
Kopajtich, Robert
;
Mertes, Christian
;
Smith, Nicholas H.
, et al.
소스
Genome Medicine
. 14(1)
Open Access (BioMed Central)
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7 .
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
저자
by
Yépez, Vicente A
;
Gusic, Mirjana
;
Kopajtich, Robert
;
Mertes, Christian
;
Smith, Nicholas H
, et al.
소스
Open Access (OpenAIRE)
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7 .
Additional file 2 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics
저자
by
Yépez, Vicente A.
;
Gusic, Mirjana
;
Kopajtich, Robert
;
Mertes, Christian
;
Smith, Nicholas H.
, et al.
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