Frédéric Huet

Cytogenetic and array‐CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome

A. De Paepe, L. Faivre, C. Thauvin-Robinet, 2010, American journal of medical genetics. Part A.

Fourth case of uterine aplasia, ovarian dysgenesis, amenorrhea and impuberism: a variant of Mayer‐Rokitansky‐Kuster‐Hauser syndrome

K. Søreide, Laurence Faivre, Frédéric Huet, 2007, Acta paediatrica.

Delineation of 15q13.3 microdeletions

M. Holder, L. Vallée, B. Gilbert-Dussardier, 2010, Clinical genetics.

Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome

C. Creuzot-Garcher, J. Thevenon, S. Lyonnet, 2015, American journal of medical genetics. Part A.

Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis

M. Cossée, L. Faivre, B. Gérard, 2012, American journal of medical genetics. Part A.

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

J. Rivière, J. Deleuze, J. Thevenon, 2017, Clinical genetics.