Results 161 to 170 of about 534,329 (316)

Current availability and status of paediatric cardiac transplantation and mechanical circulatory support in twenty-eight European countries. [PDF]

Eur J Pediatr
van der Have O, Dunne E, Tran-Lundmark K, Wacker J, Michel-Behnke I, Koubsky K, Krauss A, Van Cleemput J, Stephensen SS, Dalinghaus M, Šijak D, Topalovic M, Lubaua I, Ulger Z, Vida V, Juul K, Balmer C, Mesihovic-Dinarevic S, Fragata J, Maruszewski B, Sarkola T, Ablonczy L, Muntean I, Zahorec M, Chaudhari M, Möller T, Bonnet D, Simmonds J, Reinhardt Z, McMahon CJ.   +29 more
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK. [PDF]

EClinicalMedicine
Vanegas MI, Baranello G, Norman-Taylor F, Kokkinakis M, UK SMA Hip Consensus Group.   +4 more
europepmc   +1 more source

Paediatric Handbook [PDF]

Archives of Disease in Childhood, 1982
openaire   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Paediatric psoriasis and biologics: An evidence gap in plain sight. [PDF]

J Eur Acad Dermatol Venereol
Traidl S, Gerdes S.
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Clinical Interventions During Inter-hospital Transfer of Infants With Moderate-to-Severe Bronchiolitis: Implications for Advanced Nursing Practice. [PDF]

Nurs Crit Care
Gaudaire A, Milesi C, Morel A, Baleine J, Badr M, Deveze A, Paulhac S, Palpacuer M, Cambonie G, Gavotto A.   +9 more
europepmc   +1 more source

The ISABEL user survey [PDF]

, 2005
Briggs, Jim, Fitch, Tineke
core   +1 more source