ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen +10 more
wiley +1 more source
Regulatory roles of noncoding RNAs in oil palm response to cold stress. [PDF]
Wu Q +9 more
europepmc +1 more source
Synthesis of Epoxidized Palm Oil-Based Trimethylolpropane Ester by In Situ Epoxidation Method [PDF]
Ferra Naidir +3 more
openalex
Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
Hybrid Deep Learning Model for Date Palm Disease Classification: A Fusion of HybridConv Mixer and Vision Transformer. [PDF]
Mir TA +5 more
europepmc +1 more source
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
Fabrication of PLA-Date Fiber Biocomposite via Extrusion Filament Maker for 3D Printing and Its Characterization for Eco-Friendly and Sustainable Applications. [PDF]
Mian SH +3 more
europepmc +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Comparative Bone-Protective Effects of Tocotrienol Isomers from Palm and Annatto in Dexamethasone-Induced Osteoporotic Male Rats. [PDF]
Ramli ESM +5 more
europepmc +1 more source

