Results 231 to 240 of about 2,672,563 (309)

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale   +2 more
wiley   +1 more source

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe   +9 more
wiley   +1 more source

First-in-Human Totally Endoscopic Robotic Repair of Cor Triatriatum Sinistrum Under Ventricular Fibrillation. [PDF]

open access: yesJACC Case Rep
Bisleri G   +6 more
europepmc   +1 more source

Inferior vena cava hyperechoic structure in a patient with cardiac myxoma: a surgical case report and literature review. [PDF]

open access: yesGen Thorac Cardiovasc Surg Cases
Yasumura H   +9 more
europepmc   +1 more source

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