Results 271 to 280 of about 520,580 (355)
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera+12 more
wiley +1 more source
Cardiac Contractility Modulation Improves Left Ventricular Function, Including Global Longitudinal Strain, in Patients with Chronic Heart Failure. [PDF]
Raab C, Roehl P, Wiora M, Ebelt H.
europepmc +1 more source
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone+13 more
wiley +1 more source
Hypertensive Disorders of Pregnancy and Peripartum Cardiomyopathy: A Meta-Analysis of Prevalence and Impact on Left Ventricular Function and Mortality. [PDF]
Biljic-Erski A+15 more
europepmc +1 more source
INFLUENCE OF SURGERY FOR ISCHEMIC HEART DISEASE ON EARLY POSTOPERATIVE LEFT VENTRICULAR FUNCTION
Takashi Fujiwara+7 more
openalex +2 more sources
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff+8 more
wiley +1 more source
His Bundle Pacing Improves Left Ventricular Function in Patients with Bradyarrhythmia or Tachy-Brady Syndrome and Permanent Atrial Fibrillation: A Retrospective Analysis. [PDF]
Paluszkiewicz P+3 more
europepmc +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
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