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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

PloS one, 2015-08, Vol.10 (8), p.e0133636-e0133636

2015

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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

Human genome variation, 2023-05, Vol.10 (1), p.15-15, Article 15

2023

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Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

PloS one, 2016-01, Vol.11 (1), p.e0148154-e0148154

2016

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Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

PloS one, 2015-09, Vol.10 (9), p.e0139258-e0139258

2015

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Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform

Medicine (Baltimore), 2019-03, Vol.98 (12), p.e14860-e14860

2019

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A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane

Biochemical genetics, 2019-08, Vol.57 (4), p.540-554

2019

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Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study

Scientific reports, 2018-08, Vol.8 (1), p.11646-9, Article 11646

2018

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Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing

European journal of ophthalmology, 2017-11, Vol.27 (6), p.791-796

2017

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Rethinking Coaching: Critical Theory and the Economic Crisis

1, 2010

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Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases: e0148154

PloS one, 2016-01, Vol.11 (1)

2016

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Solution Structure of a Retro-inverso Peptide Analogue Mimicking the Foot-and-Mouth Disease Virus Major Antigenic Site

The Journal of biological chemistry, 1999-02, Vol.274 (6), p.3686-3692

1999

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Part IV: Theory into Coaching

Rethinking Coaching, 2010

2010

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Part II: Coaching

Rethinking Coaching, 2010

2010

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Part I: Introduction

Rethinking Coaching, 2010

2010

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Part III: Theory

Rethinking Coaching, 2010

2010

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Rethinking Coaching

Rethinking Coaching, 2010, p.3-11

2010

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A new ab initio potential energy surface for the collisional excitation of N{sub 2}H{sup +} by H{sub 2}

The Journal of chemical physics, 2015-07, Vol.143 (2)

2015

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Collisions moléculaires en phase gazeuse: Récents développements théoriques et perspectives

Reflets de la physique, 2019-03 (61), p.26-31

2019

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Clinical practice guidelines: 2006 update of recommendations for the radiotherapeutic management of patients with soft tissue sarcoma (sarcoma of the extremity, uterine sarcoma and retroperitoneal sarcoma

Cancer radiothérapie, 2006-06, Vol.10 (4), p.185-207

2006

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform

A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study

Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing

Rethinking Coaching: Critical Theory and the Economic Crisis

Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases: e0148154

Solution Structure of a Retro-inverso Peptide Analogue Mimicking the Foot-and-Mouth Disease Virus Major Antigenic Site

Part IV: Theory into Coaching

Part II: Coaching

Part I: Introduction

Part III: Theory

Rethinking Coaching

A new ab initio potential energy surface for the collisional excitation of N{sub 2}H{sup +} by H{sub 2}

Collisions moléculaires en phase gazeuse: Récents développements théoriques et perspectives

Clinical practice guidelines: 2006 update of recommendations for the radiotherapeutic management of patients with soft tissue sarcoma (sarcoma of the extremity, uterine sarcoma and retroperitoneal sarcoma

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