Results 201 to 210 of about 191,947 (264)

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 Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong   +7 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh   +1 more
wiley   +1 more source

Prevention of Premature Birth

New England Journal of Medicine, 1998
Preterm birth, which occurs in 11 percent of all pregnancies, is responsible for the majority of neonatal deaths and nearly one half of all cases of congenital neurologic disability, including cerebral palsy.1 Although all births before 37 weeks of gestation are considered premature, births before 32 weeks' gestation (2 percent of all births) account ...
R L, Goldenberg, D J, Rouse
openaire   +4 more sources

A study of premature births

The Indian Journal of Pediatrics, 1971
In this study, 252 prematures were seen among 2,886 deliveries. The average prematurity rate was 8.73 per cent. Most of the prematures (36.5 per cent) were born of women 21–25 years of age. The premature babies were most frequently (46.1 per cent) associated with the birth order of 1–3. Prematurity rate increased progressively from the most favoured to
S, Mukherjee, S N, Mukherjee
openaire   +2 more sources

Prevention of Premature Birth

Clinics in Perinatology, 1980
With six different groups of pharmacologic agents that potentially can inhibit undesirable uterine contractions, prevention of premature births should be increasingly successful. The rationale for the use of each of these agents and their advantages and disadvantages are discussed.
openaire   +2 more sources

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