Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to a <i>de novo</i> variant of uncertain significance. [PDF]
Sanghamitra S +8 more
europepmc +1 more source
Longitudinal oral and craniofacial follow-up of a genetically confirmed girl with Potocki-Lupski syndrome and repaired complete cleft palate: a case report. [PDF]
Morales-Chavez MC +2 more
europepmc +1 more source
Lenticulostriate vasculopathy in neonates: An imaging marker with heterogeneous clinical significance. [PDF]
El Azouzi M +4 more
europepmc +1 more source
Transient Neonatal Myasthenia Gravis in a Newborn Infant Presenting to an Emergency Department. [PDF]
Salib M, Knight C, Kim TY.
europepmc +1 more source
Neonatal-onset cblC-type methylmalonic acidemia combined with homocysteinemia: case report. [PDF]
Zhang G, Zhang L, Liu H.
europepmc +1 more source
Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report. [PDF]
Dusek J +5 more
europepmc +1 more source

