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Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes

Orphanet journal of rare diseases, 2016-11, Vol.11 (1), p.158-158, Article 158

2016

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Distributed IMU Sensors for In-Field Dynamic Measurements on an Alpine Ski

Sensors (Basel, Switzerland), 2024-03, Vol.24 (6), p.1805

2024

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A novel insight into neurological disorders through HDAC6 protein–protein interactions

Scientific reports, 2024-06, Vol.14 (1), p.14666-14, Article 14666

2024

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Nuclear and Compact Embeddings in Function Spaces of Generalised Smoothness

Analysis mathematica (Budapest), 2023-12, Vol.49 (4), p.1007-1039

2023

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Understanding the Social Stigma of Fetal Alcohol Spectrum Disorders: From Theory to Interventions

Foundations of science, 2022-06, Vol.27 (2), p.753-771

2022

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Extracellular Vesicles in CNS Developmental Disorders

International journal of molecular sciences, 2020-12, Vol.21 (24), p.9428

2020

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Involvement of extracellular vesicle microRNA clusters in developing healthy and Rett syndrome brain organoids

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.410, Article 410

2024

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Current developments in the genetics of Rett and Rett-like syndrome

Current opinion in psychiatry, 2018-03, Vol.31 (2), p.103-108

2018

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Identifying Effective Methods for Teaching Sex Education to Individuals With Intellectual Disabilities: A Systematic Review

The Journal of sex research, 2015-05, Vol.52 (4), p.412-432

2015

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Triple X syndrome: a review of the literature

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.265-271

2010

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Bio‐Inspired Large‐Area Soft Sensing Skins to Measure UAV Wing Deformation in Flight

Advanced functional materials, 2021-06, Vol.31 (23), p.n/a

2021

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Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Orphanet journal of rare diseases, 2024-08, Vol.19 (1), p.296-14, Article 296

2024

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Malarial anaemia and anaemia severity in apparently healthy primary school children in urban and rural settings in the Mount Cameroon area: cross sectional survey

PloS one, 2015-04, Vol.10 (4), p.e0123549-e0123549

2015

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Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion

Acta neuropathologica, 2024-06, Vol.147 (1), p.64, Article 64

2024

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Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta‐analysis

Developmental medicine and child neurology, 2009-05, Vol.51 (5), p.340-349

2009

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A systematic review on anti-malarial drug discovery and antiplasmodial potential of green synthesis mediated metal nanoparticles: overview, challenges and future perspectives

Malaria journal, 2019-10, Vol.18 (1), p.337-14, Article 337

2019

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A resource to explore the discovery of rare diseases and their causative genes

Scientific data, 2021-05, Vol.8 (1), p.124-124, Article 124

2021

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Spatial transcriptomic profiling: The “Next Generation Diagnosis” distinguishing between EBV+ lymphoproliferations with Hodgkin‐like features

Hematological oncology, 2023-06, Vol.41 (S2), p.262-263

2023

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Development of consensus-based guidelines for managing communication of individuals with Rett syndrome

Augmentative and alternative communication, 2020-04, Vol.36 (2), p.71-81

2020

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Ionization-Induced Self-Channeling of an Ultrahigh-Power Subnanosecond Microwave Beam in a Neutral Gas

Physical review letters, 2018-03, Vol.120 (13), p.135003-135003, Article 135003

2018

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A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

Scientific data, 2021-01, Vol.8 (1), p.10-10, Article 10

2021

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Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome

Psychopharmacology, 2015-09, Vol.232 (18), p.3319-3325

2015

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Loss of response to melatonin treatment is associated with slow melatonin metabolism

Journal of intellectual disability research, 2010-06, Vol.54 (6), p.547-555

2010

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Red meat intake-induced increases in fecal water genotoxicity correlate with pro-carcinogenic gene expression changes in the human colon

Food and chemical toxicology, 2012-02, Vol.50 (2), p.95-103

2012

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Why the dim light melatonin onset (DLMO) should be measured before treatment of patients with circadian rhythm sleep disorders

Sleep medicine reviews, 2014-08, Vol.18 (4), p.333-339

2014

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Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes

Distributed IMU Sensors for In-Field Dynamic Measurements on an Alpine Ski

A novel insight into neurological disorders through HDAC6 protein–protein interactions

Nuclear and Compact Embeddings in Function Spaces of Generalised Smoothness

Understanding the Social Stigma of Fetal Alcohol Spectrum Disorders: From Theory to Interventions

Extracellular Vesicles in CNS Developmental Disorders

Involvement of extracellular vesicle microRNA clusters in developing healthy and Rett syndrome brain organoids

Current developments in the genetics of Rett and Rett-like syndrome

Identifying Effective Methods for Teaching Sex Education to Individuals With Intellectual Disabilities: A Systematic Review

Triple X syndrome: a review of the literature

Bio‐Inspired Large‐Area Soft Sensing Skins to Measure UAV Wing Deformation in Flight

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Malarial anaemia and anaemia severity in apparently healthy primary school children in urban and rural settings in the Mount Cameroon area: cross sectional survey

Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion

Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta‐analysis

A systematic review on anti-malarial drug discovery and antiplasmodial potential of green synthesis mediated metal nanoparticles: overview, challenges and future perspectives

A resource to explore the discovery of rare diseases and their causative genes

Spatial transcriptomic profiling: The “Next Generation Diagnosis” distinguishing between EBV+ lymphoproliferations with Hodgkin‐like features

Development of consensus-based guidelines for managing communication of individuals with Rett syndrome

Ionization-Induced Self-Channeling of an Ultrahigh-Power Subnanosecond Microwave Beam in a Neutral Gas

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome

Loss of response to melatonin treatment is associated with slow melatonin metabolism

Red meat intake-induced increases in fecal water genotoxicity correlate with pro-carcinogenic gene expression changes in the human colon

Why the dim light melatonin onset (DLMO) should be measured before treatment of patients with circadian rhythm sleep disorders

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