Results 121 to 130 of about 3,412 (221)

De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.

open access: yes, 2016
COUP-TFII (NR2F2) is mapped to the 15q26 deletion hotspot associated with the common and highly morbid congenital diaphragmatic hernia (CDH). Conditional homozygous deletions of COUP-TFII in mice result in diaphragmatic defects analogous to the human ...
Donahoe, Patricia K   +5 more
core  

Radiological insights into a voluminous left-sided Morgagni-Larrey hernia: A case report. [PDF]

open access: yesRadiol Case Rep
Khlifi Taghzouti I   +6 more
europepmc   +1 more source

A rare case of incarcerated bochdalek diaphragmatic hernia in a pregnant lady

open access: yes, 2010
The occurrence of congenital diaphragmatic hernia in a pregnant adult is rare. In contrast to neonatal diaphragmatic hernias, most of the adult patients present with vague gastrointestinal symptoms mimicking other diseases hence the importance of high ...
Din, Jiffre, Ab Rashid, Islah Munjih
core  

Case series: Arterial tortuosity syndrome confirmed by homozygous <i>SLC2A10</i> variants. [PDF]

open access: yesRadiol Case Rep
AlBathi A   +5 more
europepmc   +1 more source

Infant Readmission With Severe Acute Respiratory Failure. [PDF]

open access: yesNeoreviews
McKay KG   +3 more
europepmc   +1 more source

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