Results 191 to 200 of about 65,623 (263)

A Systematic Review of Outcomes for People With Intellectual Disabilities and/or Autistic People Following Resettlement From Long-Stay Hospitals in the UK. [PDF]

J Appl Res Intellect Disabil
Rubenstein Z, Glasby J, Posaner R, Miller R, Glasby AM.   +4 more
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

The Perception of Nurses From Children With Intellectual Disabilities Using the Drawing Method: A Qualitative Study. [PDF]

Nurs Open
Durmus M, Kaçan H, Kanak M.
europepmc   +1 more source

A new Patient‐Reported Outcome Scale to assess autoimmune Encephalitis: PROSE

Annals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AIE) has long‐lasting effects. Generic clinical assessment‐scales insufficiently capture disease‐specific sequelae. Patient‐reported outcome measures (PROMs) assess outcomes important to patients, ensuring relevance in the clinic and trials.
Juliette Brenner, Yvette S. Crijnen, Ilse Kulderij, Sammy H.C. Olijslagers, Cinthia J. Ruhe, Anke A.G. Tolido, Laura P. Kersten, Julia C.P. Verkoelen, Chelsey N. Kret, Brigit Thomassen, Finn I. van Wijnen, Juna M. de Vries, Tessa M. Bienfait, Tessa Brand, Jeroen Kerstens, Robin W. van Steenhoven, Anna E. M. Bastiaansen, Marienke A.A.M. de Bruijn, Agnes van Sonderen, Sharon Veenbergen, Ava Easton, Peter A. E. Sillevis Smitt, Esther van den Berg, Melissa Mandarakas, Maarten J. Titulaer   +24 more
wiley   +1 more source

Sedentary behaviour and physical activity levels in Swedish adolescents with and without intellectual disabilities. [PDF]

BMC Pediatr
Lund Ohlsson M, Staunton CA, Flygare Wallén E, Andersson EP, Fjellström S.   +4 more
europepmc   +1 more source

The mechanism of labor in nonhuman primates: A look inside

The Anatomical Record, EarlyView.
Abstract While in humans, the flexed position of the fetus and its rotating course down the birth canal are well documented, in other primates the mechanism of labor is unknown. Despite the lack of comparative data, it is commonly assumed that the human obstetric mechanism is unique, and anthropologists have disputed when and why the transition to the ...
Melissa K. Stoller
wiley   +1 more source

Neurodegenerative Biomarkers in Populations with Intellectual Disabilities: Diagnostic and Therapeutic Capacities. [PDF]

Int J Mol Sci
Shateri A, Tahan M.
europepmc   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Evaluating the Hearing-Related Quality of Life in People With Intellectual Disabilities. [PDF]

J Intellect Disabil Res
Zielonkowski S, Mathmann P, Naghipour A, Wasmuth S, Prein L, Parfitt R, Brannath W, Scharpenberg M, Jankovic V, Neumann A, Schwarze K, Schäfer K, Speckemeier C, Gietmann C, Neumann K.   +14 more
europepmc   +1 more source