INBORN ERRORS OF UREAGENESIS; RESULTS OF THERAPY IN 44 PATIENTS [PDF]
, 1984 Saul W. Brusilow
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Efficient imaging and computer vision detection of two cell shapes in young cotton fibers
Applications in Plant Sciences, Volume 10, Issue 6, November-December 2022., 2022 Abstract Premise The shape of young cotton (Gossypium) fibers varies within and between commercial cotton species, as revealed by previous detailed analyses of one cultivar of G. hirsutum and one of G. barbadense. Both narrow and wide fibers exist in G. hirsutum cv.
Benjamin P. Graham +5 more
wiley +1 more source
A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu +10 more
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An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum
, 1978 Emanuel Epstein
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Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. [PDF]
, 1986 Peter T. Clayton +5 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SATB2‐associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT‐rich sequence‐binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain.
Nao Ukita +5 more
wiley +1 more source
ACP Broadsheet 120: January 1989. Guide to diagnosis of inborn errors of metabolism in district general hospitals. [PDF]
, 1989 A Green
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Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren +10 more
wiley +1 more source
Sustained Reduction in Severe Intraventricular Hemorrhage in Micropremature Infants: A Quality Improvement Intervention. [PDF]
Children (Basel)Wong SE +4 more
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