Results 271 to 280 of about 1,938,552 (387)
Anhidrotic ectodermal dysplasia presenting as a pyrexia of undertermined origin in the neonatal period [PDF]
, 1968 J. Mills
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source
Association of Neonatal Glycemia With Neurodevelopmental Outcomes at 4.5 Years
JAMA pediatrics, 2017 C. McKinlay +16 more
semanticscholar +1 more source
Gluconeogenesis from amino acids in neonatal rat liver [PDF]
, 1967 D. Yeung, IT Oliver
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan +4 more
wiley +1 more source
Carbohydrate formation from various precursors in neonatal rat liver [PDF]
, 1968 Richard G. Vernon +2 more
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Neonatal adrenal hemorrhage and neonatal jaundice
Journal of Indian Association of Pediatric Surgeons, 2010 openaire +4 more sources
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz +3 more
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Pancreatic Extract in Neonatal Treatment of Meconium Ileus: Report of a case.
, 1969 Norman G. Kirby, B. H. Valentine
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Influence of Anaesthesia on the Incidence of Maternal Morbidity, Neonatal Asphyxia, and Perinatal Mortality [PDF]
, 1963 P. J. Huntingford
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