Results 121 to 130 of about 281,552 (268)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Perjalanan Kesenian ISI Denpasar "Ni Diah Tantri" Ke Istana Negara

, 2003
Perjalanan Kesenian ISI Denpasar "Ni Diah Tantri" Ke Istana Negara 1 ...
ISI , Denpasar
core   +1 more source

Islamic Public Administration in Practice: The Taliban's “Gender Apartheid” Governance in Afghanistan

Public Administration and Development, EarlyView.
ABSTRACT This article analyzes the Taliban's post‐2021 governance model through the Islamic Public Administration (IPA) framework, focusing on justice, equality, and women's inclusion. It asks: (1) How does the Taliban's governance align with core IPA principles?
Parwiz Mosamim, Jean‐Patrick Villeneuve   +1 more
wiley   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Tabuh Lelambatan Klasik Gong Gede ISI Denpasar

Tabuh Lelambatan Klasik Gong Gede ISI Denpasar 4 ...
ISI , Denpasar
core   +1 more source

Combining Laser‐Induced Edition to Collision‐Induced Sequencing of Digital Oligomers in a Single Gas‐Phase Experiment

Rapid Communications in Mass Spectrometry, EarlyView.
ABSTRACT Rationale To increase the confidentiality level of molecular tags, binary information can be hidden in sequence‐defined oligomers using isobaric monomers including a photo‐sensitive one, which mass can be modified upon light irradiation. Reading such secured data requires light edition prior to MS/MS sequencing, which was investigated here in ...
Clothilde Comby‐Zerbino, Jean‐François Lutz, Luke MacAleese, Laurence Charles   +3 more
wiley   +1 more source

Implementation of the In Vitro Seizure Liability Assay (iLA^seizure) in Drug Discovery and Development: Mechanism of Action Case Studies. [PDF]

Pharmacol Res Perspect
Rockley K, Roberts R, Jennings H, Jones K, Maizières MA, Morton M.   +5 more
europepmc   +1 more source

Environmental Stressors Influence Spatial Complexity in a Fluvial Macrophyte meadow

Remote Sensing in Ecology and Conservation, EarlyView.
This research investigates the nonlinear relationships between environmental stressors and the fine‐scale spatial complexity of a fluvial macrophytes meadow. The use of multivariate spatial analysis allowed us to identify two major environmental gradients (nutrients and light) and two major complexity gradients (related to abundance and fragmentation).
Arthur de Grandpré, Christophe Kinnard, Andrea Bertolo   +2 more
wiley   +1 more source

Karya Ujian Sarjana ISI Denpasar

Karya Ujian Sarjana ISI Denpasar 1. Tari Kontemporer, Karya I Nyoman Budiasa 2. Tari Kontemporer, Karya Ni Wayan Sri Sadriani 3.
ISI , Denpasar
core   +1 more source

The effectiveness of digital therapeutics in improving sleep quality: a systematic review and network meta-analysis. [PDF]

BMC Med
Tong Z, Ye G, Fan S, Li Y, Zhang J, Zhang H, Chen Q, Wang H, Li H, Wang J.   +9 more
europepmc   +1 more source