[HTML][HTML] Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic
NJ Boczek, AN Sigafoos, MT Zimmermann… - Clinical Case …, 2016 - ncbi.nlm.nih.gov
Next-generation sequencing has ushered in an era of individualized medicine enabling a
patient's genome to be interrogated in search of variants implicated in disease. This has …
patient's genome to be interrogated in search of variants implicated in disease. This has …
Degenerative disorders of the newborn
CM Elitt, JJ Volpe - Volpe's Neurology of the Newborn, 2025 - Elsevier
Degenerative disorders of the newborn are relatively rare. Nonetheless, they are important
to recognize because a few are treatable when diagnosed early. Dividing these disorders …
to recognize because a few are treatable when diagnosed early. Dividing these disorders …
[PDF][PDF] Alexander Disease GeneReview Table 3
S Srivastava, A Waldman, S Naidu - ncbi.nlm.nih.gov
Title: Alexander Disease GeneReview Table 3 Authors: Srivastava S, Waldman A, Naidu S
Updated: November 2020 Note: The following Page 1 Title: Alexander Disease GeneReview …
Updated: November 2020 Note: The following Page 1 Title: Alexander Disease GeneReview …