檢索結果 - Christophe Némos
- Showing 1 - 3 results of 3
-
1
-
2
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements 由 Lila Allou, Laëtitia Lambert, D. Amsallem, Éric Bieth, Patrick Edery, Anne Destrèe, François Rivier, David J. Amor, Elizabeth Thompson, Julian Nicholl, Michael Harbord, Christophe Némos, Aline Saunier, Aissa Moustaïne, Adeline Vigouroux, Philippe Jonveaux, Christophe Philippe
出版 2012Artigo -
3
Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1</i></scp> gene: A new case to update the <scp>Okur–Chung</scp> neurodevelopmental syndrome 由 A Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Müller, J. Colné, François Feillet, Emmanuelle Schmitt, Matheus Augusto Araújo Castro, Jullian Savatt, Adriano Burcheri, Christophe Némos, Christophe Philippe, Laëtitia Lambert
出版 2024Artigo
相關主題
Biology
Gene
Genetics
Microcephaly
Phenotype
Autism
Cell biology
Cellular differentiation
Chemistry
Corpus callosum
Exome sequencing
Extracellular matrix
Global developmental delay
Hypertelorism
Hypotonia
Hypoxia (environmental)
Intellectual disability
MECP2
Medicine
Mesenchymal stem cell
Multipotent Stem Cell
Muscle Hypotonia
Neurodevelopmental disorder
Neuroscience
Ophthalmology
Organic chemistry
Oxygen
Oxygen tension
Pediatrics
Progenitor cell