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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

Scientific reports, 2022-07, Vol.12 (1), p.11423-11423, Article 11423

2022

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Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

Human mutation, 2006-03, Vol.27 (3), p.255-259

2006

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Tests non invasifs et maladies géniques : que peut-on faire ?

Revue de médecine périnatale, 2016, Vol.8 (1), p.18-25

Vincent, M.-C

2016

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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Human genetics, 2010-05, Vol.127 (5), p.583-593

2010

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Quality of life in children suffering from headaches: a systematic literature review

Journal of headache and pain, 2023-09, Vol.24 (1), p.127-127, Article 127

2023

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A Survey of Work-Related Pain Prevalence Among Construction Workers in Hong Kong: A Case-Control Study

International journal of environmental research and public health, 2019-04, Vol.16 (8), p.1404

2019

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Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases

British journal of dermatology (1951), 2010-05, Vol.162 (5), p.1044-1048

2010

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Risks of Artificial Intelligence

1, 2016

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X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings

Clinical genetics, 2010-09, Vol.78 (3), p.257-266

2010

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The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

Clinical genetics, 2011-03, Vol.79 (3), p.225-235

2011

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A validation study of the Caregiver Mastery Scale for partners of patients with acquired brain injury

Clinical rehabilitation, 2018-04, Vol.32 (4), p.493-500

2018

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The Effects of a Blended Care Intervention in Partners of Patients With Acquired Brain Injury – Results of the CARE4Carer Randomized Controlled Trial

Archives of physical medicine and rehabilitation, 2024-02, Vol.105 (2), p.352-358

2024

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Burden, anxiety and depressive symptoms in partners - course and predictors during the first two years after stroke

Topics in stroke rehabilitation, 2023-08, Vol.30 (6), p.533-542

2023

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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

Human mutation, 2010-02, Vol.31 (2), p.113-126

2010

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Effect of Acupuncture on Heart Rate Variability: A Systematic Review

Evidence-based complementary and alternative medicine, 2014, Vol.2014 (2014), p.1-19

2014

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The effect of parasites on sex differences in selection

Heredity, 2015-04, Vol.114 (4), p.367-372

2015

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Investigation of Polycrystalline Nickel Silicide Films as a Gate Material

Journal of the Electrochemical Society, 2001, Vol.148 (5), p.G271

2001

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Granulomatous lesions in lymph nodes of slaughter pigs bacteriologically negative for Mycobacterium avium subsp. avium and positive for Rhodococcus equi

Veterinary microbiology, 2007-03, Vol.120 (3), p.352-357

2007

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Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation

Journal of cystic fibrosis, 2017-03, Vol.16 (2), p.198-206

2017

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Cognitive effects of a 30‐min aerobic exercise bout on adults with overweight/obesity and type 2 diabetes

Obesity science & practice, 2017-09, Vol.3 (3), p.289-297

2017

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Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy‐like phenotype

American journal of medical genetics, 2004-08, Vol.128A (4), p.410-413

2004

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Application of nanofiltration models for the prediction of lactose retention using three modes of operation

Journal of food engineering, 2010-08, Vol.99 (3), p.373-376

2010

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Sphenoid dysplasia in patients with neurofibromatosis type 1: Clinical features and imaging findings including cerebrospinal fluid alterations

European journal of paediatric neurology, 2023-01, Vol.42, p.28-33

2023

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Transition from Premutation to Full Mutation in Fragile X Syndrome is Likely to be Prezygotic

Human molecular genetics, 1997-07, Vol.6 (7), p.971-979

1997

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Proppant Diagenesis—Integrated Analyses Provide New Insights Into Origin, Occurrence, and Implications for Proppant Performance

SPE production & operations, 2012-05, Vol.27 (2), p.131-144

2012

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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

Tests non invasifs et maladies géniques : que peut-on faire ?

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Quality of life in children suffering from headaches: a systematic literature review

A Survey of Work-Related Pain Prevalence Among Construction Workers in Hong Kong: A Case-Control Study

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases

Risks of Artificial Intelligence

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

A validation study of the Caregiver Mastery Scale for partners of patients with acquired brain injury

The Effects of a Blended Care Intervention in Partners of Patients With Acquired Brain Injury – Results of the CARE4Carer Randomized Controlled Trial

Burden, anxiety and depressive symptoms in partners - course and predictors during the first two years after stroke

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

Effect of Acupuncture on Heart Rate Variability: A Systematic Review

The effect of parasites on sex differences in selection

Investigation of Polycrystalline Nickel Silicide Films as a Gate Material

Granulomatous lesions in lymph nodes of slaughter pigs bacteriologically negative for Mycobacterium avium subsp. avium and positive for Rhodococcus equi

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation

Cognitive effects of a 30‐min aerobic exercise bout on adults with overweight/obesity and type 2 diabetes

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy‐like phenotype

Application of nanofiltration models for the prediction of lactose retention using three modes of operation

Sphenoid dysplasia in patients with neurofibromatosis type 1: Clinical features and imaging findings including cerebrospinal fluid alterations

Transition from Premutation to Full Mutation in Fragile X Syndrome is Likely to be Prezygotic

Proppant Diagenesis—Integrated Analyses Provide New Insights Into Origin, Occurrence, and Implications for Proppant Performance

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