Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation

Por Slavin, T. P., Zaidi, S. J., Neal, C., Nishikawa, B., Seaver, L. H.
Publicado em 2013

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.

Por Seaver, L H, Pierpont, J W, Erickson, R P, Donnerstein, R L, Cassidy, S B
Publicado em 1994

Neurotropic Cutaneous Malignancies: Case Report on Keratinocyte Derived Malignancies of the Head and Neck With Perineural Invasion

Por Grace Sora Ahn, Brian Hinds, Frederic Kolb, Amy K. Reisenauer, Seaver L. Soon, Ali R. Sepahdari, Kathryn B. Bollin, Soo J. Park
Publicado em 2022-05-01

Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations

Por Kumar, R A, Leach, S, Bonaguro, R, Chen, J, Yokom, D W, Abrahams, B S, Seaver, L, Schwartz, C E, Dobyns, W, Brooks-Wilson, A, Simpson, E M
Publicado em 2007

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

Por Villard, L., Bonino, M., Abidi, F., Ragusa, A., Belougne, J., Lossi, A., Seaver, L., Bonnefont, J., Romano, C., Fichera, M., Lacombe, D., Hanauer, A., Philip, N., Schwartz, C., Fontes, M.
Publicado em 1999