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Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis

EMBO reports, 2024-05, Vol.25 (5), p.2418-2440

2024

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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

Human molecular genetics, 2022-08, Vol.31 (16), p.2766-2778

2022

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Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

Frontiers in endocrinology (Lausanne), 2019-04, Vol.10, p.263

2019

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Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant

JIMD reports, 2023-03, Vol.64 (2), p.161-166

2023

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Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent

European journal of human genetics : EJHG, 2019-01, Vol.27 (1), p.22-27

2019

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Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria

Brain (London, England : 1878), 2024-01, Vol.147 (1), p.91-99

2024

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Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria

Brain (London, England : 1878), 2024-01, Vol.147 (1), p.91-99

2024

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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

American journal of human genetics, 2021-11, Vol.108 (11), p.2112-2129

2021

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J5 Outcome in 25% at-risk individuals after presymptomatic testing for huntington’s disease

Journal of neurology, neurosurgery and psychiatry, 2016-09, Vol.87 (Suppl 1), p.A77-A77

2016

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Oligo-astrocytoma in LZTR1-related Noonan syndrome

European journal of medical genetics, 2020-01, Vol.63 (1), p.103617-103617, Article 103617

2020

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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

European journal of human genetics : EJHG, 2024-08, Vol.32 (8), p.954-963

2024

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Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study

The Journal of urology, 2020-05, Vol.203 (5), p.1017-1023

2020

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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.445-458

2023

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Growth charts in Kabuki syndrome 1

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.446-453

2020

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Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant

JIMD reports, 2023, Vol.64 (2), p.161-166

2023

Volltextzugriff (PDF)

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

Frontiers in endocrinology, 2019, Vol.10, p.263-263

2019

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Interest of a multispecies approach in active biomonitoring: Application in the Meuse watershed

The Science of the total environment, 2022-02, Vol.808, p.152148-152148, Article 152148

2022

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Bioaccumulation of Toxoplasma and Cryptosporidium by the freshwater crustacean Gammarus fossarum: Involvement in biomonitoring surveys and trophic transfer

Ecotoxicology and environmental safety, 2016-11, Vol.133, p.188-194

2016

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Non Linearity of the Ball/Rubber Impact in Table Tennis: Experiments and Modeling

Procedia engineering, 2016, Vol.147, p.348-353

2016

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Associations between 25-hydroxyvitamin D and immunologic, metabolic, inflammatory markers in treatment-naive HIV-infected persons: the ANRS CO9 «COPANA» cohort study

PloS one, 2013-09, Vol.8 (9), p.e74868-e74868

2013

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Burden of HIV disease and comorbidities on the chances of maintaining employment in the era of sustained combined antiretoviral therapies use

AIDS (London), 2012-01, Vol.26 (2), p.207-215

2012

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Immune deficiency could be an early risk factor for altered insulin sensitivity in antiretroviral-naive HIV-1-infected patients: the ANRS COPANA cohort

Antiviral therapy, 2012, Vol.17 (1), p.91-100

2012

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Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant

Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent

Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria

Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

J5 Outcome in 25% at-risk individuals after presymptomatic testing for huntington’s disease

Oligo-astrocytoma in LZTR1-related Noonan syndrome

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Growth charts in Kabuki syndrome 1

Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

Interest of a multispecies approach in active biomonitoring: Application in the Meuse watershed

Bioaccumulation of Toxoplasma and Cryptosporidium by the freshwater crustacean Gammarus fossarum: Involvement in biomonitoring surveys and trophic transfer

Non Linearity of the Ball/Rubber Impact in Table Tennis: Experiments and Modeling

Associations between 25-hydroxyvitamin D and immunologic, metabolic, inflammatory markers in treatment-naive HIV-infected persons: the ANRS CO9 «COPANA» cohort study

Burden of HIV disease and comorbidities on the chances of maintaining employment in the era of sustained combined antiretoviral therapies use

Immune deficiency could be an early risk factor for altered insulin sensitivity in antiretroviral-naive HIV-1-infected patients: the ANRS COPANA cohort

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