Results 101 to 110 of about 4,213,461 (261)
COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad +7 more
wiley +1 more source
Ambulatory care report guidebook for Pre-Hospital Emergency Care Council [PDF]
, 2011 In order to provide safe reliable healthcare to the patient it is important that the information provided is accurate, valid, reliable, timely, relevant,legible and complete.Quality Health Information is the corner stone which will ensure that ...
Pre-Hospital Emergency Care Council
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang +16 more
wiley +1 more source
Ophthalmology fact sheet from the National Ambulatory Medical Care Survey
The National Ambulatory Medical Care Survey (NAMCS) produces statistics that represent the experience of the U.S. population at visits to office-based physicians.
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The National Ambulatory Medical Care Survey, ... summary, United States.
, 1975 Mode of access ...
National Ambulatory Medical Care Survey (U.S.) +1 more
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L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai +5 more
wiley +1 more source
Dermatology fact sheet from the National Ambulatory Medical Care Survey
The National Ambulatory Medical Care Survey (NAMCS) produces statistics that represent the experience of the U.S. population at visits to office-based physicians.
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan +13 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American 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
Ambulatory and Hospital Care Ambulatory and Hospital Care Statistics Branch Overview
MTGkdg-Ambulatory and Hospital Care Statistics Branch Overview - PBeatty and ...
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