Results 101 to 110 of about 202,994 (344)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Harmony or Discordance between Sacramental and Liturgical Theology?

Religions
This paper aims to show a way of approximating between liturgical studies and sacramental theology, trying to undo a too formal separation between the two sciences.
Luz Imelda Acedo Moreno
doaj   +1 more source

The Qala`i sword mystery

, 2023
The Qala`i sword remains a mystery. Few researchers are interested to pursue this extensively. I actually wonder if many Malays have heard of this sword and have gone to discover precious findings. My hunch is there is a passing interest gleaned from a
Hj Yaacob, Solehah @ Nik Najah Fadilah
core  

The continuing mystery of lipid rafts

Journal of Molecular Biology, 2016
Since its initial formalization nearly twenty years ago, the concept of lipid rafts has generated a tremendous amount of attention and interest, and nearly as much controversy. The controversy is perhaps surprising because the notion itself is intuitive:
I. Levental, S. Veatch
semanticscholar   +1 more source

Mystery

, 2016
Unknow
Cousin IT, Cousin IT (5289163)
core   +1 more source

From Crisis to Harmony: J.W. Goethe and H. von Hofmannsthal’s Early Works [PDF]

Studia Litterarum
For the first time in Russian literary studies, the article examines the problem of influence of the German classics on the novice Austrian poet and playwright Hugo von Hofmannsthal.
Yuriy L. Tsvetkov
doaj   +1 more source

An Organic System Open to an Intelligible Reality: The Concept of Method in Antonio Rosmini

Religions
Oftentimes, reality seems to us a chaos that we try to control with our theories. This article starts from the antithetic standpoint, inspired by Antonio Rosmini’s works: reality is intelligible, and originates our thinking.
Lucia Bissoli
doaj   +1 more source

Dickens and mystery [PDF]

, 1997
This thesis examines the role of mystery in the later Dickens. Primarily, it is concerned with defining the role of mystery in Dickensian narrative and reading these texts in the context of ideas of mystery, narrative and detection. The thesis deals with
Baltakmens, Andrei
core   +1 more source

The Poetics of Kinship

Art/Research International
We write about the poetics of kinship with birds, trees, stones, and places as an act of resistance to neo-literal, neo-liberal destruction of refuge for non-human beings. Through research in which we situate ourselves in relation to the more-than-human,
Margaret McKeon, Kedrick James
doaj   +1 more source

Heterotrophic nitrification – An eternal mystery in the nitrogen cycle

Soil Biology and Biochemistry, 2022
P. Martikainen
semanticscholar   +1 more source