T. Busa

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

A. Afenjar, N. Philip, J. Thevenon, 2018, The Journal of clinical endocrinology and metabolism.

Hygiene of nasal masks used at home for non-invasive ventilation in children.

F. Bittar, E. Bosdure, J. Dubus, 2010, Journal of Hospital Infection.

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

S. Julia, N. Philip, M. Till, 2015, Clinical genetics.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

H syndrome: novel and recurrent mutations in SLC29A3

N. Philip, A. Zlotogorski, V. Molho-Pessach, 2010, The British journal of dermatology.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.