Christine Bole‐Feysot

Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Differentiation Defects in Neural Crest-Specific Adar1 Knockout Mice

Lisa Zerad, Nadjet Gacem, Fanny Gayda, L Day et autres

fr, cz (code pays fourni par la source)

Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation

Quentin Riller, Boris Sorin, Charline Courteille, Duong Ho‐Nhat et autres

fr, be, us (code pays fourni par la source)

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li et autres

Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation

Suzanne Chartier, Lucile Boutaud, Édouard Le Guillou, Caroline Alby et autres

fr (code pays fourni par la source)

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot, Thomas Blanc, Laureline Berteloot, Sophia Ladraa et autres

fr (code pays fourni par la source)

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Florence Habarou, Yamina Hamel, Tobias B. Haack, René G. Feichtinger et autres

fr, de, pl, at, nl (code pays fourni par la source)

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

Emmanuelle Ranza, Céline Huber, N. A. Levin, Geneviève Baujat et autres

fr, ch, us, tr, ae, ca, gb, nl (code pays fourni par la source)

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Dennis Mircsof, Maéva Langouët, Marlène Rio, Sébastien Moutton et autres

ch, fr, gb, us (code pays fourni par la source)

A human immunodeficiency caused by mutations in the PIK3R1 gene

Marie‐Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suárez et autres