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Can you hear us now? The impact of health-care utilization by rare disease patients in the United States

Genetics in medicine, 2021-11, Vol.23 (11), p.2194-2201

2021

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Machine intelligence in healthcare-perspectives on trustworthiness, explainability, usability, and transparency

NPJ digital medicine, 2020-03, Vol.3 (1), p.47-47, Article 47

2020

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The importance of international collaboration for rare diseases research: a European perspective

Gene therapy, 2017-09, Vol.24 (9), p.562-571

2017

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The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.429-429, Article 429

2021

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Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Clinical and translational science, 2018-01, Vol.11 (1), p.21-27

2018

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Hydrothermal carbonization of glucose: Secondary char properties, reaction pathways, and kinetics

Chemical engineering journal (Lausanne, Switzerland : 1996), 2022-12, Vol.449, p.137827, Article 137827

2022

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International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

EMBO molecular medicine, 2019-05, Vol.11 (5), p.n/a

2019

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Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective

Clinical and translational science, 2018-01, Vol.11 (1), p.11-20

2018

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Estimating rare disease prevalence and costs in the USA: a cohort study approach using the Healthcare Cost Institute claims data

BMJ Public Health, 2024-03, Vol.2 (1), p.e000346

2024

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A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)

Advances in experimental medicine and biology, 2017, Vol.1031, p.349-369

2017

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A call to action for translational sciences in COVID-19 and future pandemics

Nature reviews. Drug discovery, 2022-03, Vol.21 (3), p.165-166

2022

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Estimating the Effects of Urban Street Incidents on Capacity

Transportation research record, 2017, Vol.2615 (1), p.55-61

2017

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Molecular characterization of de novo secondary trisomy 13

American journal of human genetics, 1994-11, Vol.55 (5), p.968-974

1994

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SA36 Characterizing Rare Disease Healthcare Utilization Using a Real-World Data Platform

Value in health, 2022-07, Vol.25 (7), p.S611

2022

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Near-infrared fluorescence-guided sentinel node mapping of the ovary with Indocyanine green in a minimally invasive setting: a feasible study

Journal of minimally invasive gynecology, 2017-01, Vol.24 (1), p.165-170

2017

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Machine intelligence in healthcare-perspectives on trustworthiness, explainability, usability, and transparency

NPJ digital medicine, 2020-03, Vol.3 (1), p.47

2020

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Robotic Hysterectomy in Severely Obese Patients With Endometrial Cancer: A Multicenter Study

Journal of minimally invasive gynecology, 2016-01, Vol.23 (1), p.94-100

2016

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Predicted and Measured Resting Energy Expenditure in Children with Spinal Muscular Atrophy 2

The Journal of pediatrics, 2014-05, Vol.164 (5), p.1228-1230

2014

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Chorionic villus sampling utilization following reports of a possible association with fetal limb defects

Prenatal diagnosis, 1994-05, Vol.14 (5), p.327-332

1994

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Use of SAND Balloon Catheter for Laparoscopic Management of Extremely Large Ovarian Cysts

Journal of minimally invasive gynecology, 2011-11, Vol.18 (6), p.779-784

2011

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Fetal exsanguination following intrauterine angiographic assessment and selective termination of a hydrocephalic, monozygotic co-twin

Prenatal diagnosis, 1989-05, Vol.9 (5), p.301-308

1989

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Long‐term outcome of consecutive case series of congenital isolated agenesis of corpus callosum

Ultrasound in obstetrics & gynecology, 2022-10, Vol.60 (4), p.494-498

2022

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ADHD Dimension, Childhood trauma and Perceived Stress: an observational study on peripartum women affected by mood and anxiety disorders

European psychiatry, 2023-03, Vol.66 (S1), p.S651-S652

2023

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Impact of mother’s childhood trauma on development of psychopathological dimensions in patients with peripartum mental disorders

European psychiatry, 2024-08, Vol.67 (S1), p.S159-S159

2024

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Crossing the border between epileptic and vascular pathology: a report of CACNA1A-related treatment-resistant hemiplegic migraine

Journal of neurology, 2023-11, Vol.270 (11), p.5639-5644

2023

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Can you hear us now? The impact of health-care utilization by rare disease patients in the United States

Machine intelligence in healthcare-perspectives on trustworthiness, explainability, usability, and transparency

The importance of international collaboration for rare diseases research: a European perspective

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

Hydrothermal carbonization of glucose: Secondary char properties, reaction pathways, and kinetics

International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective

Estimating rare disease prevalence and costs in the USA: a cohort study approach using the Healthcare Cost Institute claims data

A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)

A call to action for translational sciences in COVID-19 and future pandemics

Estimating the Effects of Urban Street Incidents on Capacity

Molecular characterization of de novo secondary trisomy 13

SA36 Characterizing Rare Disease Healthcare Utilization Using a Real-World Data Platform

Near-infrared fluorescence-guided sentinel node mapping of the ovary with Indocyanine green in a minimally invasive setting: a feasible study

Machine intelligence in healthcare-perspectives on trustworthiness, explainability, usability, and transparency

Robotic Hysterectomy in Severely Obese Patients With Endometrial Cancer: A Multicenter Study

Predicted and Measured Resting Energy Expenditure in Children with Spinal Muscular Atrophy 2

Chorionic villus sampling utilization following reports of a possible association with fetal limb defects

Use of SAND Balloon Catheter for Laparoscopic Management of Extremely Large Ovarian Cysts

Fetal exsanguination following intrauterine angiographic assessment and selective termination of a hydrocephalic, monozygotic co-twin

Long‐term outcome of consecutive case series of congenital isolated agenesis of corpus callosum

ADHD Dimension, Childhood trauma and Perceived Stress: an observational study on peripartum women affected by mood and anxiety disorders

Impact of mother’s childhood trauma on development of psychopathological dimensions in patients with peripartum mental disorders

Crossing the border between epileptic and vascular pathology: a report of CACNA1A-related treatment-resistant hemiplegic migraine

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