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European Journal of Endocrinology
|
October 29, 2019
Should we genotype the sperm of fathers from patients with 'de novo' mutations?
Eric Pasmant, Laurence Pacot
Annales De Biologie Clinique
|
September 30, 2017
Study of two comparison procedures applied to biochemical results from twin analyzers
Lise Larcher, Laurence Pacot, Sophie Bailleul, et al.
Annales De Biologie Clinique
|
April 6, 2017
Discovery of diabetes in the elderly: what diagnosis?
Pacifique Lévy, Laurence Pacot, Jean-Philippe Bastard, et al.
Gene
|
May 25, 2020
Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation
Nathalie Carion, Audrey Briand, Laurence Cuisset, et al.
Human Genetics
|
March 13, 2026
High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients
Matthieu Peyre, Cécile Barbance, Suzanne Tran, et al.
European Journal of Human Genetics : EJHG
|
February 2, 2023
Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
Laurence Pacot, Albain Chansavang, Sébastien Jacques, et al.
BMC Medical Genomics
|
March 6, 2024
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review
Laurence Pacot, Milind Girish, Samantha Knight, et al.
Frontiers in Medicine
|
March 27, 2020
Interstitial Lung Disease-Complicated Anti-MDA5 Antibody in Clinically Amyopathic Dermatomyositis Patients: Report of Two Cases With Distinct Clinical Features
Laurence Pacot, Jacques Pouchot, Nicolas De Prost, et al.
Journal of Medical Genetics
|
December 28, 2023
Breast cancer risk in <i>NF1</i>-deleted patients
Laurence Pacot, Julien Masliah-Planchon, Adina Petcu, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 18, 2021
Prevalence of Enthesopathies in Adults With X-linked Hypophosphatemia: Analysis of Risk Factors
Julia Herrou, Axelle Salcion Picaud, Louis Lassalle, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 24) with videos related to
Sort By:
Page
of 3
European Journal of Endocrinology
|
October 29, 2019
Should we genotype the sperm of fathers from patients with 'de novo' mutations?
Eric Pasmant, Laurence Pacot
Annales De Biologie Clinique
|
September 30, 2017
Study of two comparison procedures applied to biochemical results from twin analyzers
Lise Larcher, Laurence Pacot, Sophie Bailleul, et al.
Annales De Biologie Clinique
|
April 6, 2017
Discovery of diabetes in the elderly: what diagnosis?
Pacifique Lévy, Laurence Pacot, Jean-Philippe Bastard, et al.
Gene
|
May 25, 2020
Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation
Nathalie Carion, Audrey Briand, Laurence Cuisset, et al.
Human Genetics
|
March 13, 2026
High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients
Matthieu Peyre, Cécile Barbance, Suzanne Tran, et al.
European Journal of Human Genetics : EJHG
|
February 2, 2023
Comment on Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
Laurence Pacot, Albain Chansavang, Sébastien Jacques, et al.
BMC Medical Genomics
|
March 6, 2024
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review
Laurence Pacot, Milind Girish, Samantha Knight, et al.
Frontiers in Medicine
|
March 27, 2020
Interstitial Lung Disease-Complicated Anti-MDA5 Antibody in Clinically Amyopathic Dermatomyositis Patients: Report of Two Cases With Distinct Clinical Features
Laurence Pacot, Jacques Pouchot, Nicolas De Prost, et al.
Journal of Medical Genetics
|
December 28, 2023
Breast cancer risk in <i>NF1</i>-deleted patients
Laurence Pacot, Julien Masliah-Planchon, Adina Petcu, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 18, 2021
Prevalence of Enthesopathies in Adults With X-linked Hypophosphatemia: Analysis of Risk Factors
Julia Herrou, Axelle Salcion Picaud, Louis Lassalle, et al.
Page
of 3