Concepedia
Statistics
Publications
3
Citations
99
H-Index
Active since
2020
Affiliations
Hôpital Necker-Enfants Malades(Current)
Inserm
Assistance Publique – Hôpitaux de Paris
Université Paris Cité
Children's National
Thuy-Linh Le is an author at Hôpital Necker-Enfants Malades specializing in life sciences, genetics, and human genetics.
Publications per year
2020–2023
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans
Thuy-Linh Le, Louise Galmiche, J Lévy et al. · Journal of Clinical Investigation · 2021 · 48 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling
Thuy-Linh Le, Yunia Sribudiani, Xiaomin Dong et al. · The American Journal of Human Genetics · 2020 · 35 citations · Full text
Life Sciences, Developmental Biology, Genetics +14
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian et al. · The American Journal of Human Genetics · 2023 · 16 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
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