Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por fecha
Mostrando ítems 1-20 de 136
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Etude génétique et fonctionnelle de l’ataxie spastique autosomique récessive de Charlevoix-Saguenay (ARSACS)
(Bordeaux, 2014-11-27)Thèses de doctorat -
Régulation du métabolisme énergétique : étude du remodelage bioénergétique du cancer
(Bordeaux, 2014-12-12)Thèses de doctorat -
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 -
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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Human mitochondrial DNA sequencing by Oxford Nanopore MinION
(51. Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with European Meeting on Psychosocial Aspects of Genetics (EMPAG), IT, Milan, 2019)Autre communication scientifique (congrès sans actes - poster - séminaire...) -
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 -
Techniques d'exploration chromosomique en prénatal : mises au point et applications
(Bordeaux, 2019-10-07)Thèses de doctorat -
Euglycemic ketoacidosis induced by therapeutic fasting in a non-diabetic patient
(Nutrition. vol. 72, pp. 110668, 2020)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 -
Clinical variability and probable founder effect in oculocutaneous albinism type 7.
BATAILLE, Pauline; MICHAUD, Vincent; ROBERT, Matthieu P ...
(Clinical Genetics. vol. 97, n° 3, pp. 527-528, 2020-03-01)Article de revue -
Albinism: An Underdiagnosed Condition.
ARVEILER, Benoit; MICHAUD, Vincent; LASSEAUX, Eulalie
(Journal of Investigative Dermatology. vol. 140, n° 7, pp. 1449-1451, 2020-07-01)Article de revue -
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
PENNAMEN, Perrine; LE, Linh; TINGAUD-SEQUEIRA, Angele ...
(Genetics in Medicine. vol. 22, n° 10, pp. 1613-1622, 2020-10-01)Article de revue -
Re-focusing on Agnathia-Otocephaly complex
(Clinical Oral Investigations. vol. 25, n° 3, pp. 1353-1362, 2021)Article de revue -
Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited
GOIZET, Cyril
(Journal of Neurology, Neurosurgery and Psychiatry. vol. 92, n° 1, 2021)Article de revue -
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
TINGAUD-SEQUEIRA, Angele; TRIMOUILLE, Aurelien; SALARIA, Manju ...
(Human Genetics. vol. 140, n° 6, pp. 933-944, 2021)Article de revue