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Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1383-1389

2019

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Testicular growth and spermatogenesis: new goals for pubertal hormone replacement in boys with hypogonadotropic hypogonadism? ‐a multicentre prospective study of hCG/rFSH treatment outcomes during adolescence

Clinical endocrinology (Oxford), 2017-01, Vol.86 (1), p.75-87

2017

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The A645D Mutation in the Hinge Region of the Human Androgen Receptor (AR) Gene Modulates AR Activity, Depending on the Context of the Polymorphic Glutamine and Glycine Repeats

The journal of clinical endocrinology and metabolism, 2006-09, Vol.91 (9), p.3515-3520

2006

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Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene

The journal of clinical endocrinology and metabolism, 2004-05, Vol.89 (5), p.2150-2152

2004

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Identification of a Novel Mutation in the Human Mineralocorticoid Receptor Gene in a German Family with Autosomal-Dominant Pseudohypoaldosteronism Type 1: Further Evidence for Marked Interindividual Clinical Heterogeneity

The journal of clinical endocrinology and metabolism, 2003-04, Vol.88 (4), p.1683-1686

2003

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Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

Human mutation, 2005-05, Vol.25 (5), p.502-502

2005

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Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH

The journal of clinical endocrinology and metabolism, 1997-12, Vol.82 (12), p.3933-3940

1997

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Clinical, Endocrine, and Molecular Genetic Findings in Patients with 17β-Hydroxysteroid Dehydrogenase Deficiency

Hormone research in paediatrics, 2000, Vol.53 (1), p.26-31

2000

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Thirteen novel mutations in the NR0B1 ( DAX1 ) gene as cause of adrenal hypoplasia congenita: MUTATIONS IN BRIEF

Human mutation, 2005-05, Vol.25 (5), p.502-502

2005

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No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

American journal of medical genetics, 2003-08, Vol.121A (1), p.82-84

2003

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Resistance to Thyrotropin (TSH) in Three Families Is not Associated with Mutations in the TSH Receptor or TSH 1

The journal of clinical endocrinology and metabolism, 1997-12, Vol.82 (12), p.3933-3940

1997

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Resistance to Thyrotropin (TSH) in Three Families Is not Associated with Mutations in the TSH Receptor or TSH1

The journal of clinical endocrinology and metabolism, 1997-12, Vol.82 (12), p.3933-3940

1997

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Considérations sur l'approche européenne d'acceptabilité des matériaux au contact des eaux de consommation humaine

Journal européen d’hydrologie, 2002, Vol.33 (1), p.41-52

2002

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Etude des performances d'un extracteur liquide-liquide en continu

Journal français d'hydrologie, 1991, Vol.22 (2), p.211-224

1991

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P-Body Purification Reveals the Condensation of Repressed mRNA Regulons

Molecular cell, 2017-10, Vol.68 (1), p.144-157.e5

2017

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Nonlinear feedback drives homeostatic plasticity in H2O2 stress response

eLife, 2017-04, Vol.6

2017

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40 Ma of hydrothermal W mineralization during the Variscan orogenic evolution of the French Massif Central revealed by U-Pb dating of wolframite

Mineralium deposita, 2018, Vol.53 (1), p.21-51

2018

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Replacement of in vivo human rabies vaccine potency testing by in vitro glycoprotein quantification using ELISA – Results of an international collaborative study

Vaccine, 2017-02, Vol.35 (6), p.966-971

2017

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Uranium deposits of Franceville basin (Gabon): Role of organic matter and oil cracking on uranium mineralization

Ore geology reviews, 2020-08, Vol.123, p.103579, Article 103579

2020

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Prevalence of Taenia saginata cysticercosis in French cattle in 2010

Veterinary parasitology, 2014-06, Vol.203 (1-2), p.65-72

2014

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Erratum to: 40 Ma of hydrothermal W mineralization during the Variscan orogenic evolution of the French Massif Central revealed by U-Pb dating of wolframite

Mineralium deposita, 2018, Vol.53 (1), p.53-53

2018

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Nonlinear feedback drives homeostatic plasticity in H.sub.2O.sub.2 stress response

eLife, 2017-04, Vol.6

2017

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Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience

Hormone research in paediatrics, 2015-01, Vol.83 (5), p.345-357

2015

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Flower-Shaped Trapiche Ruby from Mong Hsu, Myanmar: A Revised Growth Mechanism

Journal of gemmology (1986), 2020-01, Vol.37 (4), p.404-415

2020

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Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A

Testicular growth and spermatogenesis: new goals for pubertal hormone replacement in boys with hypogonadotropic hypogonadism? ‐a multicentre prospective study of hCG/rFSH treatment outcomes during adolescence

The A645D Mutation in the Hinge Region of the Human Androgen Receptor (AR) Gene Modulates AR Activity, Depending on the Context of the Polymorphic Glutamine and Glycine Repeats

Autosomal-Dominant Pseudohypoaldosteronism Type 1 in a Turkish Family Is Associated with a Novel Nonsense Mutation in the Human Mineralocorticoid Receptor Gene

Identification of a Novel Mutation in the Human Mineralocorticoid Receptor Gene in a German Family with Autosomal-Dominant Pseudohypoaldosteronism Type 1: Further Evidence for Marked Interindividual Clinical Heterogeneity

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH

Clinical, Endocrine, and Molecular Genetic Findings in Patients with 17β-Hydroxysteroid Dehydrogenase Deficiency

Thirteen novel mutations in the NR0B1 ( DAX1 ) gene as cause of adrenal hypoplasia congenita: MUTATIONS IN BRIEF

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

Resistance to Thyrotropin (TSH) in Three Families Is not Associated with Mutations in the TSH Receptor or TSH 1

Resistance to Thyrotropin (TSH) in Three Families Is not Associated with Mutations in the TSH Receptor or TSH1

Considérations sur l'approche européenne d'acceptabilité des matériaux au contact des eaux de consommation humaine

Etude des performances d'un extracteur liquide-liquide en continu

P-Body Purification Reveals the Condensation of Repressed mRNA Regulons

Nonlinear feedback drives homeostatic plasticity in H2O2 stress response

40 Ma of hydrothermal W mineralization during the Variscan orogenic evolution of the French Massif Central revealed by U-Pb dating of wolframite

Replacement of in vivo human rabies vaccine potency testing by in vitro glycoprotein quantification using ELISA – Results of an international collaborative study

Uranium deposits of Franceville basin (Gabon): Role of organic matter and oil cracking on uranium mineralization

Prevalence of Taenia saginata cysticercosis in French cattle in 2010

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Erratum to: 40 Ma of hydrothermal W mineralization during the Variscan orogenic evolution of the French Massif Central revealed by U-Pb dating of wolframite

Nonlinear feedback drives homeostatic plasticity in H.sub.2O.sub.2 stress response

Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience

Flower-Shaped Trapiche Ruby from Mong Hsu, Myanmar: A Revised Growth Mechanism

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