Results 101 to 110 of about 128,938 (302)
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
Origin and development of agent nouns in -ino
Études romanes de BrnoAgent nouns in -ino like postino (denominal) and spazzino (deverbal) are a specialty of Italo-Romance, concentrated in the dialects of Central and Northern Italy, and hence also present in the standard language, as well as in the neighboring Rhaeto ...
Franz Rainer
doaj +1 more source
Changes in atmospheric blocking recurrence and their influence on winter temperature regimes in Kazakhstan’s regions during 1960-2020 [PDF]
Central Asian Journal of Water ResearchThe study aimed to investigate the peculiarities of spatial and temporal variability of atmospheric blocking recurrence and corresponding temperature regime variations over the territory of Kazakhstan during winter months.
Kholoptsev A.V. , Naurozbayeva Zh.K.
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger +28 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +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
Etnográfica: Revista do Centro em Rede de Investigação em Antropologia, 2011 Neste ensaio propõe-se uma releitura do livro Observers Observed: Essays on Ethnographic Fieldwork (1983), primeiro volume da coleção “History of Anthropology” dirigida por George W.
Gustavo Rubim
doaj
Three‐dimensional digital analysis of musteloid masticatory muscle architecture
The Anatomical Record, EarlyView.Musteloids span an enormous breadth of dietary modes within a single superfamily. In this study, we utilize digital dissection techniques to reconstruct the internal 3D anatomy of muscles within the musteloid feeding apparatus, and explore how dietary specializations might alter the size, orientation, and curvature of fascicles therein.
Cassidy E. Davis +6 more
wiley +1 more source