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Orphanet Journal of Rare Diseases
|
October 26, 2011
Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature
Cécile Nozières, Pascale Berlier, Clémentine Dupuis, et al.
The Journal of Urology
|
August 20, 2008
Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome
Alaa Cheikhelard, Yves Morel, Elisabeth Thibaud, et al.
European Journal of Endocrinology
|
March 11, 2015
Macroprolactinaemia: a biological diagnostic strategy from the study of 222 patients
Lucile Parlant-Pinet, Catherine Harthé, Florence Roucher, 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.
The Journal of Clinical Endocrinology and Metabolism
|
January 13, 2004
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation
Maher Kharrat, Véronique Tardy, Ridha M'Rad, 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.
The Journal of Clinical Endocrinology and Metabolism
|
May 10, 2007
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome
Régis Coutant, Delphine Mallet, Najiba Lahlou, et al.
Membranes
|
June 2, 2021
The Impact of Chemical-Mechanical Ex Situ Aging on PFSA Membranes for Fuel Cells
Mylène Robert, Assma El Kaddouri, Jean-Christophe Perrin, 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.
European Journal of Endocrinology
|
May 20, 2009
Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia
Paolo Cavarzere, Dinane Samara-Boustani, Isabelle Flechtner, et al.
Page
of 10
Search research articles
Search
Showing results (31-40 of 92) with videos related to
Sort By:
Page
of 10
Orphanet Journal of Rare Diseases
|
October 26, 2011
Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature
Cécile Nozières, Pascale Berlier, Clémentine Dupuis, et al.
The Journal of Urology
|
August 20, 2008
Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome
Alaa Cheikhelard, Yves Morel, Elisabeth Thibaud, et al.
European Journal of Endocrinology
|
March 11, 2015
Macroprolactinaemia: a biological diagnostic strategy from the study of 222 patients
Lucile Parlant-Pinet, Catherine Harthé, Florence Roucher, 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.
The Journal of Clinical Endocrinology and Metabolism
|
January 13, 2004
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation
Maher Kharrat, Véronique Tardy, Ridha M'Rad, 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.
The Journal of Clinical Endocrinology and Metabolism
|
May 10, 2007
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome
Régis Coutant, Delphine Mallet, Najiba Lahlou, et al.
Membranes
|
June 2, 2021
The Impact of Chemical-Mechanical Ex Situ Aging on PFSA Membranes for Fuel Cells
Mylène Robert, Assma El Kaddouri, Jean-Christophe Perrin, 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.
European Journal of Endocrinology
|
May 20, 2009
Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia
Paolo Cavarzere, Dinane Samara-Boustani, Isabelle Flechtner, et al.
Page
of 10