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Detection of RNA-DNA binding sites in long noncoding RNAs

Nucleic acids research, 2019-04, Vol.47 (6), p.e32

2019

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First case of desmosterolosis diagnosed by prenatal whole exome sequencing

American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.859-863

2023

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PAN-cancer analysis of S-phase enriched lncRNAs identifies oncogenic drivers and biomarkers

Nature communications, 2018-02, Vol.9 (1), p.883-20, Article 883

2018

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Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies

Prenatal diagnosis, 2024-04, Vol.44 (4), p.432-442

2024

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mrhl RNA, a Long Noncoding RNA, Negatively Regulates Wnt Signaling through Its Protein Partner Ddx5/p68 in Mouse Spermatogonial Cells

Molecular and Cellular Biology, 2012-08, Vol.32 (15), p.3140-3152

2012

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Mrhl Long Noncoding RNA Mediates Meiotic Commitment of Mouse Spermatogonial Cells by Regulating Sox8 Expression

Molecular and cellular biology, 2017-07, Vol.37 (14)

2017

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Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.13-13, Article 13

2021

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Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.113-113, Article 113

2021

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New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.903-915

2021

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Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.357-368

2017

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Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

Orphanet journal of rare diseases, 2017-03, Vol.12 (1), p.47, Article 47

2017

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Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review

Molecular genetics and metabolism reports, 2022-09, Vol.32, p.100881, Article 100881

2022

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Long Noncoding RNA: Genome Organization and Mechanism of Action

Long Non Coding RNA Biology, 2017, Vol.1008, p.47-74

2017

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An uncommon cause of early infantile liver disease and raised chitotriosidase

JIMD reports, 2020-07, Vol.54 (1), p.22-24

2020

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Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization

JIMD reports, 2019-09, Vol.49 (1), p.30-36

2019

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An Additive Sparse Logistic Regularization Method for Cancer Classification in Microarray Data

International arab journal of information technology, 2021, Vol.18 (2)

2021

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Survival achieved in infants with rapidly progressive LAL-D via sebelipase alfa ERT: Results from the International LAL-D Registry

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108065, Article 108065

2024

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Long noncoding RNAs in development and cancer: potential biomarkers and therapeutic targets

Molecular and cellular therapies, 2015-06, Vol.3 (1), p.5, Article 5

2015

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Control of focal adhesion kinase activation by RUNX1-regulated miRNAs in high-risk AML

Leukemia, 2023-04, Vol.37 (4), p.776-787

2023

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IgA nephropathy in adults with epidermolysis bullosa

Clinical and experimental dermatology, 2023-07, Vol.48 (8), p.920-925

2023

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Mechanism of Wnt signaling induced down regulation of mrhl long non-coding RNA in mouse spermatogonial cells

Nucleic acids research, 2016-01, Vol.44 (1), p.387

2016

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Oculomotor abnormalities in children with Niemann-Pick type C

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.159-168

2018

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Successful use of rituximab, an anti‐CD20 monoclonal antibody, to treat IgA nephropathy in a patient with recessive dystrophic epidermolysis bullosa

Clinical and experimental dermatology, 2022-08, Vol.47 (8), p.1588-1590

2022

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Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108251, Article 108251

2024

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Detection of RNA-DNA binding sites in long noncoding RNAs

First case of desmosterolosis diagnosed by prenatal whole exome sequencing

PAN-cancer analysis of S-phase enriched lncRNAs identifies oncogenic drivers and biomarkers

Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies

mrhl RNA, a Long Noncoding RNA, Negatively Regulates Wnt Signaling through Its Protein Partner Ddx5/p68 in Mouse Spermatogonial Cells

Mrhl Long Noncoding RNA Mediates Meiotic Commitment of Mouse Spermatogonial Cells by Regulating Sox8 Expression

Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review

Long Noncoding RNA: Genome Organization and Mechanism of Action

An uncommon cause of early infantile liver disease and raised chitotriosidase

Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization

An Additive Sparse Logistic Regularization Method for Cancer Classification in Microarray Data

Survival achieved in infants with rapidly progressive LAL-D via sebelipase alfa ERT: Results from the International LAL-D Registry

Long noncoding RNAs in development and cancer: potential biomarkers and therapeutic targets

Control of focal adhesion kinase activation by RUNX1-regulated miRNAs in high-risk AML

IgA nephropathy in adults with epidermolysis bullosa

Mechanism of Wnt signaling induced down regulation of mrhl long non-coding RNA in mouse spermatogonial cells

Oculomotor abnormalities in children with Niemann-Pick type C

yylncT Defines a Class of Divergently Transcribed lncRNAs and Safeguards the T-mediated Mesodermal Commitment of Human PSCs

Successful use of rituximab, an anti‐CD20 monoclonal antibody, to treat IgA nephropathy in a patient with recessive dystrophic epidermolysis bullosa

Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria

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