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Management of albinism: French guidelines for diagnosis and care

MORENO-ARTERO, E.; MORICE-PICARD, Fanny; BREMOND-GIGNAC, D. ...

(Journal of the European Academy of Dermatology and Venereology. vol. 35, n° 7, pp. 1449-1459, 2021-05-27)

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Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2

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...

(Science Immunology. vol. 6, n° 61, 2021-07-30)

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)

DE BOER, Elke; OCKELOEN, Charlotte W.; MATALONGA, Leslie ...

(European Journal of Human Genetics. vol. 29, n° 9, pp. 1470-1471, 2021-07-15)

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Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.

RICCARDI, Florence; ASTIER, Alexandre; GRISVAL, Margot ...

(Genetics in Medicine. vol. 23, n° 10, pp. 2003-2004, 2021-06-02)

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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

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(Clinical Genetics. vol. 100, n° 4, pp. 468-477, 2021-07-01)

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Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study

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(European Journal of Medical Genetics. vol. 64, n° 10, 2021-10)

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Proteomic study of low-birth-weight nephropathy in rats

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...

(International Journal of Molecular Sciences. vol. 22, n° 19, 2021-09-24)

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A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity

PERRIN-COCON, Laure; VIDALAIN, Pierre-Olivier; JACQUEMIN, Clemence ...

(Communications Biology. vol. 4, n° 1, 2021-02-16)

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Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I

NUBER, Franziska; SCHIMPF, Johannes; DI RAGO, Jean-Paul

...

(Scientific Reports. vol. 11, n° 1, 2021-06-16)

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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

MESSIAEN, Claude; RACINE, Caroline; KHATIM, Ahlem ...

(Orphanet Journal of Rare Diseases. vol. 16, n° 1, 2021-08-04)

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CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

BOUTIN, Julian

; ROSIER, Juliette

; CAPPELLEN, David

...

(Nature Communications. vol. 12, n° 1, 2021-08-13)

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Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome

CHAFAI ELALAOUI, Siham; SMAILI, Wiam; VAN-GILS, Julien

...

(African Health Sciences. vol. 21, n° 2, pp. 960-967, 2021-08-02)

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Severe phenotype in patients with large deletions of NF1

PACOT, Laurence; VIDAUD, Dominique; SABBAGH, Audrey ...

(Cancers. vol. 13, n° 12, 2021-06-13)

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Pre-operative peripheral intravenous cannula insertion failure at the first attempt in adults: Development of the VENSCORE predictive scale and identification of risk factors

ANGLES, Emeline; ROBIN, Florian; MOAL, Bertrand ...

(Journal of Clinical Anesthesia. vol. 75, pp. 110435, 2021-07-22)

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A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages

ADRIEN, Jean-Louis; TAUPIAC, Emmanuelle

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(Research in Developmental Disabilities. vol. 116, pp. 104029, 2021-07-13)

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Adult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients

TOQUET, Segolene; SPODENKIEWICZ, Marta; DOUILLARD, Claire ...

(Journal of Inherited Metabolic Disease, 2021-05-20)

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Effects of capnometry monitoring during recovery in the post-anaesthesia care unit: a randomized controlled trial in adults (CAPNOSSPI).

POTVIN, Julien; ETCHEBARNE, Isabelle; SOUBIRON, Laurent ...

(Journal of clinical monitoring, 2022-04)

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Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1

PRUDHOMME, L.; DELLECI, Claire

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...

(European Journal of Medical Genetics. vol. 63, n° 4, pp. 103815, 2020)

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Euglycemic ketoacidosis induced by therapeutic fasting in a non-diabetic patient

LARROUMET, A.; CAMOIN, M.; FOUSSARD, N. ...

(Nutrition. vol. 72, pp. 110668, 2020)

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End-expiratory occlusion maneuver to predict fluid responsiveness in the intensive care unit : an echocardiographic study

GEORGES, D.; DE COURSON DE LA VILLENEUVE, Hugues

; LANCHON, R. ...

(Crit Care. vol. 22, n° 1, pp. 32, 2018-02)

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Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211: Dépôts récents

Management of albinism: French guidelines for diagnosis and care ﻿

Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2 ﻿

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2) ﻿

Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al. ﻿

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum ﻿

Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study ﻿

Proteomic study of low-birth-weight nephropathy in rats ﻿

A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity ﻿

Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I ﻿

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France ﻿

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells ﻿

Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome ﻿

Severe phenotype in patients with large deletions of NF1 ﻿

Pre-operative peripheral intravenous cannula insertion failure at the first attempt in adults: Development of the VENSCORE predictive scale and identification of risk factors ﻿

A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages ﻿

Adult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients ﻿

Effects of capnometry monitoring during recovery in the post-anaesthesia care unit: a randomized controlled trial in adults (CAPNOSSPI). ﻿

Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1 ﻿

Euglycemic ketoacidosis induced by therapeutic fasting in a non-diabetic patient ﻿

End-expiratory occlusion maneuver to predict fluid responsiveness in the intensive care unit : an echocardiographic study ﻿

Management of albinism: French guidelines for diagnosis and care

Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)

Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study

Proteomic study of low-birth-weight nephropathy in rats

A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity

Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome

Severe phenotype in patients with large deletions of NF1

Pre-operative peripheral intravenous cannula insertion failure at the first attempt in adults: Development of the VENSCORE predictive scale and identification of risk factors

A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages

Adult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients

Effects of capnometry monitoring during recovery in the post-anaesthesia care unit: a randomized controlled trial in adults (CAPNOSSPI).

Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1

Euglycemic ketoacidosis induced by therapeutic fasting in a non-diabetic patient

End-expiratory occlusion maneuver to predict fluid responsiveness in the intensive care unit : an echocardiographic study