Results 171 to 180 of about 26,933 (290)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta   +9 more
wiley   +1 more source

HUBUNGAN POSTUR BERSEPEDA TERHADAP FORWARD HEAD POSTURE DI KOMUNITAS TAJINAN CYCLING CLUB (TCC) KABUPATEN MALANG

open access: yes
Background: The cycling movement increases the body's resistance to mechanical loads on the body's limbs. The body's role in repetitive cycling conditions can cause musculoskeletal disorders, these disorders are problems that are interrelated with the ...
Imanda, Arsyi
core  

Evaluation of forward head posture in sitting and standing positions

open access: yes, 2016
Purpose: Head postural assessment is part of the orthopaedic physical examination process and could help to identify faulty head postures. One of the most common faulty postures of the craniocervical region is the forward head posture (FHP).
Ahmadi, A.   +3 more
core  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Building Community Amidst the Institutional Whiteness of Graduate Study: Black Joy and Maroon Moves in an Academic Marronage

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi   +6 more
wiley   +1 more source

Comment on “Can Charge Transfer Across C─H···O Hydrogen Bonds Stabilize Oil Droplets in Water?”

open access: yesAngewandte Chemie, EarlyView.
Nanoscale oil droplets in water are kinetically stable and charged, with a pH dependent electrophoretic mobility. Although the source of this charge is agreed to arise from water, 2 main hypotheses remain: OH− adsorption or electronic charge density displaced via hydrogen bonds. Molecular surface specific experiments are reviewed, that all point to the
P. Singh   +3 more
wiley   +2 more sources

The Relationship Between Nearsightedness and Forward Head Posture

open access: yes, 2023
Zunitasari Kholifah Islamiatun   +2 more
openaire   +1 more source

Effect Of Postural Corrective Exercises In Forward Head Posture - Review Of Literature

open access: yes
ABSTRACT Background: Forward head posture is the most common misalignment of neck. It can lead to headaches, unusual neck pain, and stiffness in muscles. Posture corrective exercises (PCE) are use to correct this misalignment hence improving the quality of life of patient. Methods: The databases included are goggle scholar and PubMed.
openaire   +1 more source

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