Results 191 to 200 of about 825,487 (323)

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

Altercentric Memory Error at 9 Months But Correct Object Memory by 18 Months Revealed in Infants' Pupil. [PDF]

Dev Sci
Tebbe AL, Rothmaler K, Zielke HE, Hepach R, Wiesmann CG.   +4 more
europepmc   +1 more source

Sanguineous Discharge from the Vagina of an Infant [PDF]

J. Birchenall
openalex   +1 more source

SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT [PDF]

, 1951
Denis Leigh
openalex   +1 more source

Implementing Multimodal Hardware Security with 2D α‐In2Se3 Ferroelectric Transistor

Advanced Science, EarlyView.
A multimodal secure transistor‐integrated in‐memory sensing and computing architecture is demonstrated by leveraging its electronic and optoelectronic synaptic behaviors. Key security primitives, such as anticounterfeiting, watermarking, logic locking, and camouflaging, are implemented within a compact single‐transistor structure, providing a scalable ...
Xinwei Zhang, Jiachao Zhou, Yishu Zhang, Jian Chai, Yongqing Bai, Hailiang Wang, Qian He, Xi Wang, Lin Wang, Yuda Zhao, Yang Xu, Bin Yu   +11 more
wiley   +1 more source

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023
Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram, Hetalika C. Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka   +11 more
wiley   +1 more source

Crossing the Boundary: No Catastrophic Limits on Infants' Capacity to Represent Linguistic Sequences. [PDF]

Dev Sci
Reoyo-Serrano N, Dimakou A, Nascimben C, Bastianello T, Lucangeli D, Benavides-Varela S.   +5 more
europepmc   +1 more source

PROGRESSIVE FIBRINOID DEGENERATION OF FIBRILLARY ASTROCYTES ASSOCIATED WITH MENTAL RETARDATION IN A HYDROCEPHALIC INFANT [PDF]

, 1949
W.S. Alexander
openalex   +1 more source

The Dynamic Landscape of 3′‐UTR Alternative Polyadenylation Across Mouse Fetal Development and Anatomy

Advanced Science, EarlyView.
This work maps 3′‐UTR APA across mouse fetal development and tissues, identifying conserved sequence determinants that influence pAS choice. In fetal brain tissues, complex APA dynamics during development are potentially regulated by RBPs like Rbm38, which restrict distal pAS usage.
Qin Wang, Xin Chen, Xiao‐Ou Zhang
wiley   +1 more source

Teaching perspectives on the communication of difficult news of genetic conditions to medical students

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023
Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse, Tracey Weiler, Elizabeth A. Roth, Sharmila Upadhya, Helga V. Toriello, Ariel J. VanLeuven, John R. Norris, John C. Carey, Andrew K. Sobering   +8 more
wiley   +1 more source