A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report von Wilke, Matheus V. M. B., Schimmenti, Lisa, Lopour, Madeline Q. R., Tollefson, Megha M., Klee, Eric W.

Volltext

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing von Brodsky, Michael C., Olson, Rory J., Asumda, Faizal Z., Lopour, Madeline Q.R., Schimmenti, Lisa A., Klee, Eric W.

Volltext

Alström syndrome caused by maternal uniparental disomy von Lopour, Madeline Q.R., Schimmenti, Lisa A., Boczek, Nicole J., Kearney, Hutton M., Drack, Arlene V., Brodsky, Michael C.

Volltext

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing von Brodsky, Michael C, Olson, Rory J, Asumda, Faizal Z, Lopour, Madeline Q R, Schimmenti, Lisa A, Klee, Eric W

Volltext

Alström syndrome caused by maternal uniparental disomy von Lopour, Madeline Q R, Schimmenti, Lisa A, Boczek, Nicole J, Kearney, Hutton M, Drack, Arlene V, Brodsky, Michael C

Volltext