Zobrazeno 1 - 10
of 3 641
pro vyhledávání: '"Clara D."'
Autor:
Annelieke R. Müller, Erik Boot, Stijn B. Notermans, Carlo Schuengel, Lidewij Henneman, Martina C. Cornel, Mieke M. van Haelst, Mariëlle Alders, Clara D. M. van Karnebeek, Bas Bijl, Frits A. Wijburg, Agnies M. van Eeghen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care. Implications of ID on health are often complex and require a multidisciplinary ap
Externí odkaz:
https://doaj.org/article/13db67d541484357bc556a2612613591
Autor:
Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuri
Externí odkaz:
https://doaj.org/article/669290e2ed32488ea080f09a5a972315
Autor:
Nadia Y. van Silfhout, Maud M. van Muilekom, Clara D. van Karnebeek, Lotte Haverman, Agnies M. van Eeghen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Introduction Rare genetic neurodevelopmental disorders and intellectual disability (ID), collectively called genetic ID (GID), can profoundly impact daily functioning and overall well-being of affected individuals. To improve our understandi
Externí odkaz:
https://doaj.org/article/867cad4038a642219531ff65d47c129a
Autor:
Bruce Hayward, Daman Kumari, Saikat Santra, Clara D. M. van Karnebeek, André B. P. van Kuilenburg, Karen Usdin
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Fu
Externí odkaz:
https://doaj.org/article/d5440151ce024f64b7170c28c47217da
Autor:
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. vanKarnebeek, Annemiek M. J. vanWegberg
Publikováno v:
JIMD Reports, Vol 65, Iss 3, Pp 188-203 (2024)
Abstract Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management. In this follow
Externí odkaz:
https://doaj.org/article/f955a4ca03d540fd85954588043933a3
Autor:
Juan E. Valdiviezo-Campos, Clara D. Rodriguez-Aredo, Segundo G. Ruiz-Reyes, Edmundo A. Venegas-Casanova, Rainer W. Bussmann, Mayar L. Ganoza-Yupanqui
Publikováno v:
Journal of Pharmacy & Pharmacognosy Research, Vol 12, Iss 2, Pp 323-347 (2024)
Context: Given the growing public health crisis caused by viral diseases, traditional medicine stands as one of the fundamental pillars for the study and discovery of phytometabolites with antiviral properties. It is necessary to investigate and eval
Externí odkaz:
https://doaj.org/article/366500bc9ec341c89b39659ab4a187b9
Autor:
Liz van de Riet, Anna M. Aris, Nick W. Verouden, Tibor van Rooij, Job B.M. van Woensel, Clara D. van Karnebeek, Mattijs W. Alsem
Publikováno v:
PEC Innovation, Vol 4, Iss , Pp 100280- (2024)
Objective: Hospital-to-home (H2H) transitions challenge families of children with medical complexity (CMC) and healthcare professionals (HCP). This study aimed to gain deeper insights into the H2H transition process and to work towards eHealth interv
Externí odkaz:
https://doaj.org/article/76823ec1ba554d28ab0c97d370bd25fb
Autor:
Claudia Fuchs, Peter A. C. ‘t Hoen, Annelieke R. Müller, Friederike Ehrhart, Clara D. M. Van Karnebeek
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Rett syndrome (RTT) and Rett-like syndromes [i.e., CDKL5 deficiency disorder (CDD) and FOXG1-syndrome] represent rare yet profoundly impactful neurodevelopmental disorders (NDDs). The severity and complexity of symptoms associated with these disorder
Externí odkaz:
https://doaj.org/article/e3e1bc73abcc4c9ebc099277824730f6
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract This study assessed whether Non-native Directed Speech (NNDS) facilitates second language (L2) learning, specifically L2 word learning and production. Spanish participants (N = 50) learned novel English words, presented either in NNDS or Nat
Externí odkaz:
https://doaj.org/article/141792cd3bab40a5a7618f2d526ce985
Autor:
Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, Frédéric M. Vaz, Marion M. Brands, Hoang Lan Le, Agnies M. van Eeghen, Peter M. van de Ven, Martina C. Cornel, Bart A.W. Jacobs, Hilgo Bruining, Clara D. van Karnebeek
Publikováno v:
Contemporary Clinical Trials Communications, Vol 38, Iss , Pp 101264- (2024)
Externí odkaz:
https://doaj.org/article/c600e47e64454d01835063d2a4f79093