Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep von Kevelam, Sietske H.G., Jansen, Floor E., Binsbergen, Ellen van, Braun, Kees P.J., Verbeek, Nienke E., Lindhout, Dick, Poot, Martin, Brilstra, Eva H.

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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2 von Kevelam, Sietske H.G., van Harssel, Jeske J.T., van der Zwaag, Bert, Smeets, Hubertus J.M., Paulussen, Aimee D.C., Lichtenbelt, Klaske D.

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A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3Mb deletion encompassing GLI2 von Kevelam, Sietske HG, van Harssel, Jeske JT, van der Zwaag, Bert, Smeets, Hubertus JM, Paulussen, Aimee DC, Lichtenbelt, Klaske D

Volltext

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2 von Kevelam, Sietske H.G., van Harssel, Jeske J.T., van der Zwaag, Bert, Smeets, Hubertus J.M., Paulussen, Aimee D.C., Lichtenbelt, Klaske D.

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