Results 161 to 170 of about 7,028 (257)

Analytical solutions and dynamic behavior of conformable fractional reaction-diffusion systems. [PDF]

Sci Rep
Alshehry AS, Shah R, Alqahtani AM.
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Ferritin Iron Mineralisation: Route of Fe3+ Transfer From the Ferroxidase Centre to the Inner Cavity of Human H‐Chain Ferritin

Angewandte Chemie, EarlyView.
Proposed mechanism for Fe3+ transport from the FoC (sites 1 and 2) of human H‐chain ferritin following oxidation of the di‐Fe2+ form. Glu61, aided by the flexibility of its sidechain, plays a key role in coordinating Fe3+ at three sites (3, 4 and 5) that mark out the transit route.
Zinnia Bugg, Justin M. Bradley, Andrew M. Hemmings, Nick E. Le Brun   +3 more
wiley   +2 more sources

Dynamical anomalous transport of molecules subject to inhomogeneous body forces. [PDF]

Z Angew Math Phys
Girelli A, Giantesio G, Musesti A, Penta R.   +3 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Flame‐Retardant Quasi‐Solid‐State Electrolytes From Self‐Assembled Azolate Hybrid Frameworks for Highly Safe Lithium Batteries

Angewandte Chemie, EarlyView.
This work develops a spray‐assisted in situ assembly technique to construct AHF materials with nitrogen/oxygen‐regulated one‐dimensional channels on glass fiber, providing abundant active sites and enabling rapid transport for lithium ions. Subsequently, phosphate flame retardants are encapsulated via in situ polymerization, resulting in a thermally ...
Shun Wang, Qimin Zhu, Yuanyuan Tian, Peiyu Cui, Qing Ji, Tian Xie, Hong Wang, Dong Zhou, Guoxiu Wang, Wenhuan Huang   +9 more
wiley   +2 more sources

Fractional spatiotemporal Hahnfeldt tumor model with convergence analysis and optimal control. [PDF]

Sci Rep
Can E.
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Deep neural network model for fractional-order cancer chemotherapy dynamics. [PDF]

Sci Rep
Shafqat R, Imran, Al-Quran A, Djaouti AM.   +3 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source