Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211: envíos recientes
Mostrando ítems 121-140 de 150
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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
(Clinical Genetics. vol. 100, n° 4, pp. 468-477, 2021-07-01)Article de revue -
Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study
(European Journal of Medical Genetics. vol. 64, n° 10, 2021-10)Article de revue -
Proteomic study of low-birth-weight nephropathy in rats
IMASAWA, Toshiyuki; CLAVEROL, Stephane; LACOMBE, Didier
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(International Journal of Molecular Sciences. vol. 22, n° 19, 2021-09-24)Article de revueLibre acceso
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A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity
(Communications Biology. vol. 4, n° 1, 2021-02-16)Article de revueLibre acceso
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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)Article de revueLibre acceso
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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
(Orphanet Journal of Rare Diseases. vol. 16, n° 1, 2021-08-04)Article de revueLibre acceso
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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)Article de revueLibre acceso
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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)Article de revueLibre acceso
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Severe phenotype in patients with large deletions of NF1
(Cancers. vol. 13, n° 12, 2021-06-13)Article de revueLibre acceso
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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
(Journal of Clinical Anesthesia. vol. 75, pp. 110435, 2021-07-22)Article de revueLibre acceso
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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; THIEBAUT, Eric ...
(Research in Developmental Disabilities. vol. 116, pp. 104029, 2021-07-13)Article de revue -
Adult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients
(Journal of Inherited Metabolic Disease, 2021-05-20)Article de revue -
Effects of capnometry monitoring during recovery in the post-anaesthesia care unit: a randomized controlled trial in adults (CAPNOSSPI).
(Journal of clinical monitoring, 2022-04)Article de revue -
Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
PRUDHOMME, L.; DELLECI, Claire; TRIMOUILLE, Aurelien ...
(European Journal of Medical Genetics. vol. 63, n° 4, pp. 103815, 2020)Article de revue -
Euglycemic ketoacidosis induced by therapeutic fasting in a non-diabetic patient
(Nutrition. vol. 72, pp. 110668, 2020)Article de revue -
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)Article de revueLibre acceso
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Evaluation of the template letter regarding the disclosure of genetic information within the family in France
(Journal of Community Genetics. vol. 10, n° 4, pp. 489-, 2019-10)Article de revue -
Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders
BERENGUER, Marie; DARNAUDERY, Muriel; CLAVEROL, Stephane ...
(Scientific Reports. vol. 8, pp. 17 p., 2018)Article de revue -
Régulation du métabolisme énergétique : étude du remodelage bioénergétique du cancer
(Bordeaux, 2014-12-12)Thèses de doctorat