Results 131 to 140 of about 7,485,808 (284)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

The Fertility of a Concept: A Bibliometric Review of Human Flourishing. [PDF]

Int J Environ Res Public Health, 2022
Cebral-Loureda M, Tamés-Muñoz E, Hernández-Baqueiro A.   +2 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

The roots of belonging: childhood predictors of belonging in 22 countries

Scientific Reports
Belonging is a fundamental human need, yet its origins in childhood experiences remain underexplored. Childhood predictors of belonging in adulthood using nationally representative data have also largely been overlooked. This study analyzes data from the
Victor Counted, Kelly-Ann Allen, Byron R. Johnson, Tyler J. VanderWeele   +3 more
doaj   +1 more source

Property, Dignity, and Human Flourishing [PDF]

, 2019
Human flourishing and human dignity are not empty phrases. They have real content, and they matter in real lives. The facts are that we want to live flourishing lives and we want to live lives of dignity.
Alexander, Gregory S.
core  

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Rational Design of a Synthetic Galliphore for the Diagnostic Nuclear Imaging and Treatment of Bacterial Infections

Angewandte Chemie, EarlyView.
KO‐NH2 is a synthetic metallophore that preferentially binds Ga3+ over Fe3+ and is recognized by bacterial transporters. Photocrosslinking identifies CirA and Fiu as key uptake proteins in E. coli. KO‐NH2 enables targeted imaging and treatment of E. coli soft tissue infections.
Phuong Nguyen Tran, Axia Marlin, Edith K. Amason, Marie Huynh, Hannah Carlisle, Eszter Boros   +5 more
wiley   +2 more sources

Sociodemographic variations of belief in life after death across 22 Countries

Scientific Reports
Belief in life after death is among the oldest forms of spiritual belief, found in nearly every world civilization and religion. While several national surveys highlight differences in afterlife beliefs across countries, none have explored the ...
Zhuo Job Chen, Richard G. Cowden, Alexander Moreira-Almeida, Thomas Breedlove, Blake Victor Kent, R. Noah Padgett, Byron R. Johnson, Tyler J. VanderWeele   +7 more
doaj   +1 more source

Mindfulness and More: Toward a Science of Human Flourishing. [PDF]

Psychosom Med, 2021
Davidson RJ.
europepmc   +1 more source

Transition From Primary to Secondary School: Igniting Attendance and Engagement Among Aboriginal and Torres Strait Islander Students Through National Policy Reform

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Closing the Gap reform aims to address disparities experienced by Aboriginal and Torres Strait Islander peoples. There are specific targets focussed on key educational transitions; yet, the transition to secondary education is not a targeted priority.
Azhar Hussain Potia, Kai W. Wheeler, Tracy Woodroffe, Karen Thorpe   +3 more
wiley   +1 more source