Results 121 to 130 of about 811,999 (329)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly +3 more
wiley +1 more source
Finite element elastic-plastic-creep and cyclic life analysis of a cowl lip [PDF]
Results are presented of elastic, elastic-plastic, and elastic-plastic-creep analyses of a test-rig component of an actively cooled cowl lip. A cowl lip is part of the leading edge of an engine inlet of proposed hypersonic aircraft and is subject to ...
Arya, Vinod K. +2 more
core +1 more source
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
Theoretical evaluation of engine auxiliary inlet design for supersonic V/STOL aircraft [PDF]
A higher order panel method is used to evaluate the potential flow of a 2-D supersonic V/STOL inlet. A nonsymmetric analytical inlet model is developed to closely match a wind tunnel model tested at NASA-Lewis.
Boles, Michael A., Heavner, Richard L.
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Social cognition, psychosocial development and well-being in galactosemia
Orphanet Journal of Rare DiseasesBackground Classic galactosemia is a rare inherited metabolic disease with long-term complications, particularly in the psychosocial domain. Patients report a lower quality of social life, difficulties in interactions and social relationships, and a ...
Clémentine Bry +3 more
doaj +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.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
Scientific ReportsGastric feelings are often studied using invasive stimulations changing the stomach state and overlooking how context and personality traits shape these sensations.
Rudy Jeanne +5 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source