Myrtille Spentchian

International Registry of Patients Carrying <i>TGFBR1</i> or <i>TGFBR2</i> Mutations

Guillaume Jondeau, Jacques Ropers, Ellen S. Regalado et al. · Circulation Cardiovascular Genetics · 2016 · 192 citations · Full text

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Solveig Heide, Myrtille Spentchian, Stéphanie Valence et al. · Genetics in Medicine · 2020 · 51 citations · Full text

Developmental Anomaly, Infertility, Developmental Biology +11

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene

Myrtille Spentchian, Y Merrien, Muriel Hérasse et al. · Human Mutation · 2003 · 38 citations · Full text

Homozygous and compound heterozygous mutations in the <i>FBN1</i> gene: unexpected findings in molecular diagnosis of Marfan syndrome

Pauline Arnaud, Nadine Hanna, Mélodie Aubart et al. · Journal of Medical Genetics · 2016 · 37 citations · Full text

Three novel patients with epileptic encephalopathy due to biallelic mutations in the <scp> <i>PLCB1</i> </scp> gene

Camille Desprairies, Stéphanie Valence, Hélène Maurey et al. · Clinical Genetics · 2019 · 18 citations · Full text