Molecular Syndromology

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Katy Phelan, Heather E. McDermid · 2011 · 476 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

Marco Tartaglia, Giuseppe Zampino, Bruce D. Gelb · 2010 · 236 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Update on Kleefstra Syndrome

Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen et al. · 2011 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Variable Somatic <b><i>TIE2</i></b> Mutations in Half of Sporadic Venous Malformations

Julie Soblet, Nisha Limaye, Mélanie Uebelhoer et al. · 2013 · 175 citations

Medicine, Genetics, Molecular Genetics +17

<i>FOXG1</i>-Related Disorders: From Clinical Description to Molecular Genetics

Cédrick Florian, Nadia Bahi‐Buisson, Thierry Bienvenu · 2011 · 158 citations · Full text

Life Sciences, Genetics, Neuroscience +17