Litcius/Paper detail

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Bertrand Isidor, Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy, Benjamin Cogné, Johannes A. Mayr, Anja Brehm, Caleb Bupp, Kathryn Warren, Carlos A. Bacino, Amanda Gerard, Judith D. Ranells, Kay Metcalfe, Yolande van Bever, Yong‐hui Jiang, Bryce A. Mendelssohn, Heidi Cope, Jill A. Rosenfeld, Patrick R. Blackburn, McKinsey L. Goodenberger, Hutton M. Kearney, Joanna Kennedy, Ingrid Scurr, Krzysztof Szczałuba, Rafał Płoski, Anne de Saint Martin, Yves Alembik, Amélie Piton, Ange‐Line Bruel, Christel Thauvin‐Robinet, Alanna Strong, Karin E. M. Diderich, Dominique Bourgeois, Karin Dahan, Virginie Vignard, Dominique Bonneau, Estelle Colin, Magalie Barth, C. Camby, Geneviève Baujat, Ignacio Briceño, Alberto Gómez, Wallid Deb, Solène Conrad, Thomas Besnard, Stéphane Bezieau, Elke Krüger, Sébastien Küry, PaweƗ Stankiewicz

2021Genetics in Medicine25 citationsDOIOpen Access PDF

Topics & Concepts

PhenotypeClinical phenotypeMedicineComputational biologyGeneticsBioinformaticsBiologyGeneGenomics and Rare DiseasesGenetic Syndromes and ImprintingConnective tissue disorders research