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The Journal of Clinical Endocrinology and Metabolism
|
December 1, 2018
Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency"
Florence Roucher-Boulez, Claire Goursaud, Delphine Mallet, et al.
The Journal of Clinical Endocrinology and Metabolism
|
April 8, 2024
Letter to the Editor From Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia »
Clément Janot, Anne Bachelot, Delphine Mallet, et al.
Human Reproduction (Oxford, England)
|
October 5, 2016
Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report
Frédérique Albarel, Jeanne Perrin, Margaux Jegaden, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
March 22, 2023
Identifying elevated plasma free triiodothyronine levels: age-adapted reference intervals for pediatrics
Clément Janot, Pauline Perrin, Patricia Bretones, et al.
Frontiers in Endocrinology
|
October 2, 2019
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually <i>de novo</i> Disorder
Florence Roucher-Boulez, Delphine Mallet, Nicolas Chatron, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
January 23, 2024
Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2
Rémy Gerard, Clément Sauvestre, Pascal Barat, et al.
Basic and Clinical Andrology
|
March 15, 2023
Testicular impairment in Primary Adrenal Insufficiency caused by Nicotinamide Nucleotide Transhydrogenase (NNT) deficiency - a case report: implication of oxidative stress and importance of fertility preservation
Lucile Ferreux, Yasmine Boumerdassi, Emmanuel Dulioust, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 8, 2015
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis
Florence Roucher Boulez, Rita Menassa, Nathalie Streichenberger, et al.
Journal of Medical Genetics
|
August 17, 2025
First intragenic inversion of <i>CYP11B1</i> gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked
Clément Janot, Kahina Mohammedi, Delphine Mallet, et al.
Annales D'Endocrinologie
|
April 18, 2018
News about the genetics of congenital primary adrenal insufficiency
Florence Roucher-Boulez, Delphine Mallet-Motak, Véronique Tardy-Guidollet, et al.
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of 4
Search research articles
Search
Showing results (1-10 of 34) with videos related to
Sort By:
Page
of 4
The Journal of Clinical Endocrinology and Metabolism
|
December 1, 2018
Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency"
Florence Roucher-Boulez, Claire Goursaud, Delphine Mallet, et al.
The Journal of Clinical Endocrinology and Metabolism
|
April 8, 2024
Letter to the Editor From Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia »
Clément Janot, Anne Bachelot, Delphine Mallet, et al.
Human Reproduction (Oxford, England)
|
October 5, 2016
Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report
Frédérique Albarel, Jeanne Perrin, Margaux Jegaden, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
March 22, 2023
Identifying elevated plasma free triiodothyronine levels: age-adapted reference intervals for pediatrics
Clément Janot, Pauline Perrin, Patricia Bretones, et al.
Frontiers in Endocrinology
|
October 2, 2019
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually <i>de novo</i> Disorder
Florence Roucher-Boulez, Delphine Mallet, Nicolas Chatron, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
January 23, 2024
Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2
Rémy Gerard, Clément Sauvestre, Pascal Barat, et al.
Basic and Clinical Andrology
|
March 15, 2023
Testicular impairment in Primary Adrenal Insufficiency caused by Nicotinamide Nucleotide Transhydrogenase (NNT) deficiency - a case report: implication of oxidative stress and importance of fertility preservation
Lucile Ferreux, Yasmine Boumerdassi, Emmanuel Dulioust, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 8, 2015
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis
Florence Roucher Boulez, Rita Menassa, Nathalie Streichenberger, et al.
Journal of Medical Genetics
|
August 17, 2025
First intragenic inversion of <i>CYP11B1</i> gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked
Clément Janot, Kahina Mohammedi, Delphine Mallet, et al.
Annales D'Endocrinologie
|
April 18, 2018
News about the genetics of congenital primary adrenal insufficiency
Florence Roucher-Boulez, Delphine Mallet-Motak, Véronique Tardy-Guidollet, et al.
Page
of 4