An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

por Guillen Sacoto, Maria J., Chapman, Kimberly A., Heath, Deneen, Seprish, Mary Beth, Zand, Dina J.
Publicado 2015

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

por Kruszka, Paul S., Kirmse, Brian, Zand, Dina J., Cusmano-Ozog, Kristina, Spector, Elaine, Van Hove, Johan L., Chapman, Kimberly A.
Publicado 2014

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

por Fraser, Jamie L., Vanderver, Adeline, Yang, Sandra, Chang, Taeun, Cramp, Laura, Vezina, Gilbert, Lichter-Konecki, Uta, Cusmano-Ozog, Kristina P., Smpokou, Patroula, Chapman, Kimberly A., Zand, Dina J.
Publicado 2014

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

por Ye, Yizhou, Cho, Megan T., Retterer, Kyle, Alexander, Nora, Ben-Omran, Tawfeg, Al-Mureikhi, Mariam, Cristian, Ingrid, Wheeler, Patricia G., Crain, Carrie, Zand, Dina, Weinstein, Veronique, Vernon, Hilary J., McClellan, Rebecca, Krishnamurthy, Vidya, Vitazka, Patrik, Millan, Francisca, Chung, Wendy K.
Publicado 2015