Hôpital Universitaire Robert-Debré


Location: Paris, France (FR) FR

ISNI: 0000000419370589

ROR: https://ror.org/02dcqy320

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year




Hodgkin lymphoma: hypodense lesions in mediastinal masses (2024) Damek A, Kurch L, Franke FC, Attarbaschi A, Beishuizen A, Cepelova M, Ceppi F, et al. Journal article Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01560-8) (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article, Erratum De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2021) Schalk A, Cousin MA, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, et al. Journal article One-step Reprogramming of Human Fibroblasts into Oligodendrocyte-like Cells by SOX10, OLIG2, and NKX6.2 (2021) Chanoumidou K, Hernández-Rodríguez B, Windener F, Thomas C, Stehling M, Mozafari S, Albrecht S, et al. Journal article Expanding the spectrum of WDR62 mutations : description of new cases (2020) Ruaud L, Drunat S, Ernault A, Capri Y, Van Maldergem L, Engel C, Altuzarra C, et al. Conference contribution Exome Pool-Seq Reloaded (2020) Popp B, Vasileiou G, Zweier M, Ekici AB, Moortgat S, Lederer D, Maystadt I, et al. Conference contribution Phenotypic presentation of two additional individuals with heterozygous variants in BRSK2 (2020) Kemmer H, Popp B, Verloes A, Horn D, Holtgrewe M, Zweier C, Ehmke N Conference contribution Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) (2020) Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, et al. Journal article Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) (2020) Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, et al. Journal article Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders (2020) Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, et al. Journal article