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Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)

Movement disorders, 2023-10, Vol.38 (10), p.1950-1956

2023

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Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Scientific reports, 2023-06, Vol.13 (1), p.9737-9737, Article 9737

2023

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Clinical phenotype of germline RUNX1 haploinsufficiency : from point mutations to large genomic deletions

European journal of human genetics : EJHG, 2008-08, Vol.16 (8), p.1014-1018

2008

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Stratégie de diagnostic moléculaire de l’ataxie tardive SCA27B : mise en évidence de 140 porteurs d’expansions introniques FGF14 (GAA) ≥ 250 dans une cohorte française

Revue neurologique, 2024-04, Vol.180, p.S71-S71

2024

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Ataxie GAA-FGF14 : ataxie cérébelleuse tardive épisodique liée à une expansion intronique hétérozygote de FGF14

Revue neurologique, 2023-04, Vol.179, p.S45-S45

2023

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Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

Movement disorders, 2023-08, Vol.38 (8), p.1575-1577

2023

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End‐to‐end fusion of linear deleted chromosomes initiates a cycle of genome instability in Streptomyces ambofaciens

Molecular microbiology, 2003-10, Vol.50 (2), p.411-425

2003

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Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63642-n/a

2024

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Differential and Cross-Transcriptional Control of Duplicated Genes Encoding Alternative Sigma Factors in Streptomyces ambofaciens

Journal of Bacteriology, 2004-08, Vol.186 (16), p.5355-5365

2004

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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

EBioMedicine, 2024-01, Vol.99, p.104931-104931, Article 104931

2024

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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsResearch in context

EBioMedicine, 2024-01, Vol.99, p.104931

2024

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Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1933-1941

2010

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Intragenomic and intraspecific polymorphism of the 16S-23S rDNA internally transcribed sequences of Streptomyces ambofaciens

Microbiology (Society for General Microbiology), 2002-03, Vol.148 (Pt 3), p.633

2002

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Differential and Cross-Transcriptional Control of Duplicated Genes Encoding Alternative Sigma Factors in Streptomyces ambofaciens

Journal of bacteriology, 2004-08, Vol.186 (16), p.5355-5365

2004

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Preoperative chemotherapy for non-small-cell lung cancer: a systematic review and meta-analysis of individual participant data

The Lancet (British edition), 2014-05, Vol.383 (9928), p.1561-1571

BURDETT, Sarah

2014

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Tailored self-assembled nanocolloidal Huygens scatterers in the visible

Nanoscale, 2020-12, Vol.12 (47), p.24177-24187

2020

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The clonal and mutational evolution spectrum of primary triple―negative breast cancers

Nature (London), 2012-06, Vol.486 (7403), p.395-399

2012

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Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

Journal of hepatology, 2015-03, Vol.62 (3), p.664-672

2015

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Valuing nature’s contributions to people: the IPBES approach

Current opinion in environmental sustainability, 2017-06, Vol.26-27, p.7-16

2017

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Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL

The Journal of clinical investigation, 2024-04, Vol.134 (8), p.1-19

2024

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The Accuracy of Clinical Staging of Stage I-IIIa Non-Small Cell Lung Cancer: An Analysis Based on Individual Participant Data

Chest, 2019-03, Vol.155 (3), p.502-509

2019

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Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL

The Journal of clinical investigation, 2024-04, Vol.134 (8)

2024

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Fetal electrocardiography ST-segment analysis for intrapartum monitoring: a critical appraisal of conflicting evidence and a way forward

American journal of obstetrics and gynecology, 2019-12, Vol.221 (6), p.577-601.e11

2019

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Three-Dimensional Imaging of Phase Ordering in an Fe-Al Alloy by Bragg Ptychography

Physical review letters, 2018-12, Vol.121 (25), p.256101-256101, Article 256101

2018

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Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Clinical phenotype of germline RUNX1 haploinsufficiency : from point mutations to large genomic deletions

Stratégie de diagnostic moléculaire de l’ataxie tardive SCA27B : mise en évidence de 140 porteurs d’expansions introniques FGF14 (GAA) ≥ 250 dans une cohorte française

Ataxie GAA-FGF14 : ataxie cérébelleuse tardive épisodique liée à une expansion intronique hétérozygote de FGF14

Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

End‐to‐end fusion of linear deleted chromosomes initiates a cycle of genome instability in Streptomyces ambofaciens

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome

Differential and Cross-Transcriptional Control of Duplicated Genes Encoding Alternative Sigma Factors in Streptomyces ambofaciens

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsResearch in context

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

Intragenomic and intraspecific polymorphism of the 16S-23S rDNA internally transcribed sequences of Streptomyces ambofaciens

Differential and Cross-Transcriptional Control of Duplicated Genes Encoding Alternative Sigma Factors in Streptomyces ambofaciens

Preoperative chemotherapy for non-small-cell lung cancer: a systematic review and meta-analysis of individual participant data

Tailored self-assembled nanocolloidal Huygens scatterers in the visible

The clonal and mutational evolution spectrum of primary triple―negative breast cancers

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

Valuing nature’s contributions to people: the IPBES approach

Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL

The Accuracy of Clinical Staging of Stage I-IIIa Non-Small Cell Lung Cancer: An Analysis Based on Individual Participant Data

Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL

Fetal electrocardiography ST-segment analysis for intrapartum monitoring: a critical appraisal of conflicting evidence and a way forward

Three-Dimensional Imaging of Phase Ordering in an Fe-Al Alloy by Bragg Ptychography

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