Hôpital Necker-Enfants malades

Hospital


Location: Paris, France (FR) FR

ISNI: 0000000405939113

ROR: https://ror.org/05tr67282

Show on Map:

close-button

Types of publications

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Unpublished / Preprint

Publication year

From
To

Abstract

Journal

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression (2016) Jackson CC, Best L, Lorenzo L, Casanova JL, Wacker J, Bertz S, Agaimy A, Harrer T Journal article A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia (2016) Wohlfart S, Söder S, Smahi A, Schneider H Journal article Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) (2016) Kosfeld A, Kreuzer M, Daniel C, Brand F, Schaefer AK, Chadt A, Weiss AC, et al. Journal article The global spread of HIV-1 subtype B epidemic (2016) Magiorkinis G, Angelis K, Mamais I, Katzourakis A, Hatzakis A, Albert J, Lawyer G, et al. Journal article Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome (2015) Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramirez-Alejo N, Kilic SS, El Baghdadi J, et al. Journal article Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin (2014) Ekici AB, Hackenbeck T, Moriniere V, Panness A, Büttner M, Uebe S, Janka RM, et al. Journal article Expression of cell-cell interacting genes distinguishes HLXB9/TEL from MLL-positive childhood acute myeloid leukemia (2010) Wildenhain S, Ruckert C, Roettgers S, Harbott J, Ludwig WD, Schuster FR, Beldjord K, et al. Journal article, Letter
‹ 1 ... 4 5 6 ›