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Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364: Recent submissions

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Nitrous oxide abuse in the emergency practice, and review of toxicity mechanisms and potential markers.

Joncquel, Marie; Grzych, Guillaume; Tard, Celine; et al.
Food and Chemical Toxicology, 02-03-2022, 112894

Article dans une revue scientifique
Anatomical characterization of the too-long anterior process of the calcaneum: a computed tomography scan analysis of 69 feet.

Lucchesi, Giovanni; Bonnel, François; Wartelle, Juliette; et al.
Journal of Pediatric Orthopaedics B, 12-03-2022

Article dans une revue scientifique
Cervical lift: An update

Labbe, D.; Guerreschi, Pierre
Annales de Chirurgie Plastique Esthétique, 08-10-2017, 62, 461-473

Article dans une revue scientifique
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Fiot, Elodie; Alauze, Bertille; Donadille, Bruno; et al.
Orphanet Journal of Rare Diseases, 19-07-2022, 17, 261

Article dans une revue scientifiquefulltext
Nipple-areola complex malformations

Bourahla, Inès; Calibre, Clotilde; Duquennoy- Martinot, Veronique
Annales de Chirurgie Plastique Esthétique, 29-08-2022

Article dans une revue scientifique
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

Riant, Florence; Burglen, Lydie; Corpechot, Michaelle; et al.
Clinical Genetics, 22-05-2023

Article dans une revue scientifiquefulltext
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

Münch, J.; Engesser, M.; Schönauer, R.; et al.
Kidney International, 12-03-2022

Article dans une revue scientifique
Benefits of cryopreserved human amniotic membranes in association with conventional treatments in the management of full-thickness burns.

Hatzfeld, Anne-Sophie; Pasquesoone, Louise; Germain, Nicolas; et al.
Int Wound J, Wiley Online Library, 24-08-2019, 16 (6), 1354-1364

Article dans une revue scientifiquefulltext
Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study.

Roux-Levy, Pierre-Henry; Sanlaville, D.; De Freminville, B.; et al.
European Journal of Medical Genetics, Elsevier, 21-07-2021, 64 (10), 104290

Article dans une revue scientifique
Severe Phenotype in Patients with Large Deletions of NF1

Pacot, L.; Vidaud, D.; Sabbagh, A.; et al.
Cancers, MDPI, 12-07-2021, 13 (12), -

Article dans une revue scientifiquefulltext

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364: Recent submissions

Nitrous oxide abuse in the emergency practice, and review of toxicity mechanisms and potential markers. ﻿

Anatomical characterization of the too-long anterior process of the calcaneum: a computed tomography scan analysis of 69 feet. ﻿

Cervical lift: An update ﻿

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol). ﻿

Nipple-areola complex malformations ﻿

Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia. ﻿

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. ﻿

Benefits of cryopreserved human amniotic membranes in association with conventional treatments in the management of full-thickness burns. ﻿

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

Severe Phenotype in Patients with Large Deletions of NF1 ﻿

Nitrous oxide abuse in the emergency practice, and review of toxicity mechanisms and potential markers.

Anatomical characterization of the too-long anterior process of the calcaneum: a computed tomography scan analysis of 69 feet.

Cervical lift: An update

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Nipple-areola complex malformations

Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

Benefits of cryopreserved human amniotic membranes in association with conventional treatments in the management of full-thickness burns.

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

Severe Phenotype in Patients with Large Deletions of NF1