Targeting Complex Cutaneous Viral Infections in Search of Inborn Errors of Immunity. [PDF]
Acta Derm VenereolDo Carmo AP +6 more
europepmc +1 more source
Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi +5 more
wiley +1 more source
Comparison of Periventricular-Intraventricular Hemorrhage (IVH) Amongst Inborn and Outborn Low Birth Weight (LBW) Infants Born in the Milwaukee Area 1256 [PDF]
, 1998 Jeffery S. Garland +4 more
openalex +1 more source
IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients. [PDF]
NAR Genom BioinformPereda J +20 more
europepmc +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
PERINATAL OUTCOME OF INBORN INFANTS BORN AT 24 TO 26 WEEKS GESTATION BETWEEN 1/1990 & 12/1994. † 1312 [PDF]
, 1996 Sarah J. Kilpatrick +3 more
openalex +1 more source
Correction: Characterization of the epidemiology, susceptibility genes and clinical features of viral infections among children with inborn immune errors: a retrospective study. [PDF]
Virol JZhang H +12 more
europepmc +1 more source