F. Tran Mau Them

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling

A. Fabre, M. Barat‐Houari, I. Touitou, 2016, American journal of medical genetics. Part A.

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

A. Afenjar, C. Schaaf, U. Grasshoff, 2022, American journal of medical genetics. Part A.

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.

M. Koenig, M. Claustres, E. Bieth, 2017, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

M. Koenig, M. Claustres, E. Bieth, 2018, Fetal Diagnosis and Therapy.