Results 121 to 130 of about 61,102 (313)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
, 2015 Smyrna - Arches to support ground floor of Agora (3 storey) Turkeyhttps://digitalcommons.acu.edu/ferguson_photos/7218/thumbnail ...
Ferguson, Everett
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Analysis of flexible arches [PDF]
, 1959 A method of analysis of flexible arches under the action of axial deformation, support movements, and fabrication errors by the deflection theory method is presented in this thesis.
Sled, John James
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Overlapping arches as a decorative and an architectural element in Islamic architecture
Journal of Architecture, Art & Humanistic ScienceIslamic Architecture is characterized by its richness in many elements that were used in both architectural and decorative aspects such as the arches that were not innovations of Muslim architect, but were found in the buildings of the ancient ...
Assist. Prof. Dr. Mansour Abd al-Razik
doaj +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Arches National Park p.09 [PDF]
, 1930 Arches National Monument. Delicate Arch, one of many hundred such structures of pink sandstone in Arches National Monument, Grand County ...
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The Anatomical Record, EarlyView.Abstract The crania of leporid lagomorphs are uniquely fenestrated, including the posterior cranial bones and the lateral portion of the maxilla. The functional significance of the highly fenestrated rostrum has received considerably little attention, despite being absent in other mammalian herbivores with a long rostrum.
Amber P. Wood‐Bailey, Alana C. Sharp
wiley +1 more source
Patterning the pharyngeal arches [PDF]
, 2001 The presence of a muscularised pharynx with skeletal support is a fundamental vertebrate characteristic. Developmentally, the pharynx arises from the pharyngeal arches on either side of the head of vertebrate embryos.
Smith, A, Graham, A; id_orcid
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