Results 261 to 270 of about 225,833 (307)

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, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Genetic variability, correlation and path coefficient analysis of phenotypic traits and genetic diversity of Aman rice landraces (Oryza sativa L.). [PDF]

Sci Rep
Islam MZ, Chakrabarty T, Akter N, Khalequzzaman M, Prince MFRK, Pittendrigh BR, Tomita M, Ali MP.   +7 more
europepmc   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Breed differentiation in northern Ethiopian cattle: The application of univariate and multivariate analyses of phenotypic traits. [PDF]

PLoS One
Mustefa A, Hayelom M, Melak A.
europepmc   +1 more source

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome. [PDF]

BMC Pediatr
Wu R, Li X, He Z, Meng Z, Liang L, Tang W.   +5 more
europepmc   +1 more source

Genomic prediction with kinship-based multiple kernel learning produces hypothesis on the underlying inheritance mechanisms of phenotypic traits. [PDF]

Genome Biol
Raimondi D, Verplaetse N, Passemiers A, Jans DS, Cleynen I, Moreau Y.   +5 more
europepmc   +1 more source

Integrating sensor fusion with machine learning for comprehensive assessment of phenotypic traits and drought response in poplar species. [PDF]

Plant Biotechnol J
Zhou Z, Zhang H, Bian L, Zhou L, Ge Y.
europepmc   +1 more source

Sickle Cell Disease and Kidney Injury: Circulating Uromodulin Allows Early Tissue Specific Diagnosis and Monitoring of Treatment

American Journal of Hematology, EarlyView.
Ferras Alashkar, Robert Hable, Denise Zwanziger, Friederike Poppenborg, Raina Yamamoto, Hans Christian Reinhardt, Alexander Röth, Victor Herbst, Yara Bestmann, Marco Kai, Jürgen E. Scherberich   +10 more
wiley   +1 more source

Housing in a Large Open Cage Did Not Affect the Phenotypic Traits of Obese Male Zucker fa/fa Rats When Compared to IVC-Housed Rats, but Improved the Rats' Well-Being. [PDF]

Animals (Basel)
Gudbrandsen OA.
europepmc   +1 more source

Effects of environmental factors on the phenotypic traits and seed element accumulation of wild Elymus nutans in Tibet. [PDF]

Sci Rep
Long J, Gao X, Miao Y.
europepmc   +1 more source