Alix Clémenson

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi et al. · The American Journal of Human Genetics · 2012 · 138 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Technetium-99m-sestamibi uptake in breast tumor and associated lymph nodes.

J. Maublant, M de Latour, D. Mestas et al. · PubMed · 1996 · 106 citations

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

Laura Mary, Kirsley Chennen, Corinne Stoetzel et al. · Clinical Genetics · 2019 · 48 citations

Implementation of molecular intra-operative assessment of sentinel lymph node in breast cancer.

Abir Khaddage, Sid-Ali Berremila, Fabien Forest et al. · PubMed · 2011 · 38 citations

Fetal anomalies associated with<i>HNF1B</i>mutations: report of 20 autopsy cases

Hélène Duval, Laurence Michel‐Calemard, Marie Gonzalès et al. · Prenatal Diagnosis · 2016 · 33 citations · Full text