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Genetic Testing
|
October 6, 2006
A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island
Juliette Nectoux, Marie Pierre Audrezet, Marion Viel, et al.
Neurogenetics
|
August 25, 2010
A FOXG1 mutation in a boy with congenital variant of Rett syndrome
Tangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, et al.
Neurogenetics
|
October 7, 2009
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant
Nadia Bahi-Buisson, Juliette Nectoux, Benoit Girard, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
May 3, 2023
Association Between Plasma Rituximab Concentration and the Risk of Major Relapse in Antineutrophil Cytoplasmic Antibody-Associated Vasculitides During Rituximab Maintenance Therapy
Nihel Khoudour, Florence Delestre, Fabienne Jabot-Hanin, et al.
Muscle & Nerve
|
February 11, 2017
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients
Constantinos Papadopoulos, Pascal LaforÊt, Juliette Nectoux, et al.
Prenatal Diagnosis
|
August 13, 2025
The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia
Camille Verebi, Victor Gravrand, Claire Guerini, et al.
Annales De Biologie Clinique
|
December 21, 2019
[Development of molecular analysis by digital PCR for clinical practice: positioning, current applications and perspectives]
Jérôme Alexandre Denis, Alexandre Perrier, Juliette Nectoux, et al.
Neuro-Oncology
|
February 7, 2018
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
Camille Louvrier, Eric Pasmant, Audrey Briand-Suleau, et al.
Prenatal Diagnosis
|
February 7, 2016
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia
Lucie Orhant, Olivia Anselem, Mélanie Fradin, et al.
Annales De Biologie Clinique
|
September 19, 2018
[Development of digital PCR molecular tests for clinical practice: principles, practical implementation and recommendations]
Jérôme Alexandre Denis, Juliette Nectoux, Pierre-Jean Lamy, et al.
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of 7
Search research articles
Search
Showing results (31-40 of 67) with videos related to
Sort By:
Page
of 7
Genetic Testing
|
October 6, 2006
A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island
Juliette Nectoux, Marie Pierre Audrezet, Marion Viel, et al.
Neurogenetics
|
August 25, 2010
A FOXG1 mutation in a boy with congenital variant of Rett syndrome
Tangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, et al.
Neurogenetics
|
October 7, 2009
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant
Nadia Bahi-Buisson, Juliette Nectoux, Benoit Girard, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
May 3, 2023
Association Between Plasma Rituximab Concentration and the Risk of Major Relapse in Antineutrophil Cytoplasmic Antibody-Associated Vasculitides During Rituximab Maintenance Therapy
Nihel Khoudour, Florence Delestre, Fabienne Jabot-Hanin, et al.
Muscle & Nerve
|
February 11, 2017
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients
Constantinos Papadopoulos, Pascal LaforÊt, Juliette Nectoux, et al.
Prenatal Diagnosis
|
August 13, 2025
The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia
Camille Verebi, Victor Gravrand, Claire Guerini, et al.
Annales De Biologie Clinique
|
December 21, 2019
[Development of molecular analysis by digital PCR for clinical practice: positioning, current applications and perspectives]
Jérôme Alexandre Denis, Alexandre Perrier, Juliette Nectoux, et al.
Neuro-Oncology
|
February 7, 2018
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
Camille Louvrier, Eric Pasmant, Audrey Briand-Suleau, et al.
Prenatal Diagnosis
|
February 7, 2016
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia
Lucie Orhant, Olivia Anselem, Mélanie Fradin, et al.
Annales De Biologie Clinique
|
September 19, 2018
[Development of digital PCR molecular tests for clinical practice: principles, practical implementation and recommendations]
Jérôme Alexandre Denis, Juliette Nectoux, Pierre-Jean Lamy, et al.
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of 7