Results 151 to 160 of about 354,714 (311)

Klippel-Feil Syndrome Accompanied by Pulmonary Artery Sling

open access: bronze, 2008
Yoshiyuki Kawano   +3 more
openalex   +2 more sources

Giant pulmonary artery masquerading as pneumonia. [PDF]

open access: yesBMJ Case Rep
Blank J, Mansoor AM, Mansoor SE.
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

A rare pair: two cases of clinically isolated pulmonary artery aneurysm. [PDF]

open access: yesTher Adv Cardiovasc Dis
Cassidy-Nolan D   +5 more
europepmc   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley   +7 more
wiley   +1 more source

A Rare Case of Isolated Unilateral Atresia of Pulmonary Artery in an Elderly Female [PDF]

open access: diamond, 2019
Qurat Ul Ain   +4 more
openalex   +1 more source

Massive hemoptysis. Selective embolization of bronchial artery-left pulmonary artery fistula

open access: diamond, 2023
Federico Liberman   +4 more
openalex   +1 more source

Home - About - Disclaimer - Privacy