Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopath. Conference
Acquired Immunodeficiency Syndrome, Rhabdomyosarcoma, with Extensive Metastases, Case 9-1986, NEJM 3, 4:620,1986., 1986
The Cornelia de Lange Syndrome
J Pediatr 63:1000-1020, Ptacek,L.J., 1963