Results 91 to 100 of about 4,480,801 (360)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
California Agriculture, 1976 When California rice growers established objectives for the research they have helped support for seven years, they expressed need for varieties with short stature for greater lodging resistance, early maturity (to facilitate harvest before fall rains ...
J Rutger, M Peterson
doaj
Vitamin K2 deficiency associated with short stature in children: a cross-sectional study
BMC PediatricsBackground Short stature in children is a common concern that can result from various underlying conditions. While factors such as growth hormone deficiency and nutritional deficiencies are well-known contributors, the role of vitamin K2 (VK2) in the ...
Yanjie Shen +4 more
doaj +1 more source
JCRPEGrowth disorders resulting in extreme short stature (ESS) are often a result of deficiency in growth hormone (GH) released from the pituitary gland or a defective GH releasing receptor.
Basma Haris +4 more
doaj +1 more source
Archives of Endocrinology and Metabolism, 2020 Objective: The aim of this study was to determine the determinants of socio-economic inequality in the prevalence of short stature and underweight in Iranian children and adolescents.
Ramin Heshmat +10 more
doaj +1 more source
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]
, 2019 Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila +11 more
core +1 more source
Nutrients, 2019 Short maternal stature is identified as a strong predictor of offspring undernutrition in low and middle-income countries. However, there is limited information to confirm an intergenerational link between maternal and under-five undernutrition in ...
W. Khatun +4 more
semanticscholar +1 more source
Association Between Vitamin D Levels and Developmental Status in Short-Stature Children
ChildrenBackground: The first two years of life are crucial for child growth and development, and short stature is a common issue influenced by nutritional deficiencies. This study aimed to determine the relationship between vitamin D levels and short stature in
Mia Milanti Dewi +5 more
doaj +1 more source
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima +18 more
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