Results 101 to 110 of about 29,971 (311)
Trisomy 20pter=q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother [PDF]
, 1980 A 3 1/2-year-old boy revealed moderate motor and mental retardation, normal growth, a congenital heart defect and multiple minor dysmorphic signs and anomalies including brachycephaly, orbital hypotelorism, upward slanting palpebral fissures, short and ...
Schinzel, Albert
core +1 more source
Nordic Journal of Science and Technology Studies, 2014 The article discusses how a malformed set of twins turned into a museum object at the late eighteenth-century el Real Gabinete de Historia Natural in Madrid.
Lise Camilla Ruud
doaj
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß +22 more
wiley +1 more source
, 2013 BACKGROUND: There is a lack of educational material for adults with congenitally malformed hearts. Computer-based education has shown to have significant effects on knowledge and management of chronic diseases.
Rönning, Helén, +10 more
core +1 more source
Disentangling the Genetic Relationship Between Sleep and Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le +9 more
wiley +1 more source
Hemorrhagic myoliposis of cervical muscles induced by VPA.
, 2014 Cervical musclular myoliposis (A, normal vs. B, malformed). Histopathological examination (C, normal vs. D, malformed) (magnification, 400×). Fig. D shows the completely destruction of myofibril lineages by VPA (60 µM) (n = 36).
Yeh Chen (680848) +4 more
core +1 more source
Arthritis Care &Research, EarlyView.Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source
Immunoexpression of the hepatocyte growth factor (HGF), HGF-receptor (c-met) and STAT3 on placental tissues from malformed fetuses [PDF]
, 2002 To characterize the possible relationship between the expression of the HGF/HGF-R system with transcription factor STAT3, responsible for morphogenetic response of HGF stimulation, and the embryonic development alterations, we investigated, by ...
Grosso, Maddalena +5 more
core
Diagnostic problem of malformed infants born from diabetic mothers [PDF]
, 2004 Epidemiología y Teratología: Resultados de estudios sobre los datos del ECEMCTaking into consideration that teratogenic agents do not alter the 100% of exposed pregnancies, we posit that each malformed infant born from a diabetic mother should no be ...
Martínez-Frías, María Luisa +3 more
core +1 more source
Arthritis Care &Research, EarlyView.Objective We aimed to determine whether the short‐term response to biologics in biologic‐naive psoriatic arthritis (PsA) is better in patients initiating biologic treatment early in the disease course. Methods Patients with PsA who started on biologic therapy from the year 2000 to 2025 were included for analysis.
Sung Min Cho +4 more
wiley +1 more source