Results 191 to 200 of about 3,349,140 (303)

A global metabolomics minefield: Confounding effects of preanalytical factors when studying rare disorders. [PDF]

Anal Sci Adv, 2023
Skogvold HB, Wilson SRH, Rønning PO, Ferrante L, Opdal SH, Rognum TO, Rootwelt H, Elgstøen KBP.   +7 more
europepmc   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Cracking rare disorders: a new minimally invasive RNA-seq protocol. [PDF]

NPJ Genom Med
De Cock L, D'haenens E, Vantomme L, Backers L, Beyens A, Claes KB, De Clercq G, de Putter R, Kumps C, Schuermans N, Sourbron J, Syryn H, Tavernier S, Vanbelleghem E, Vanakker O, Vandekerckhove B, Van Damme T, Callewaert B, Dheedene A, Vergult S, Menten B.   +20 more
europepmc   +1 more source

Editorial: Copy Number Variation in Rare Disorders. [PDF]

Front Genet, 2022
Komlósi K, Gyenesei A, Bene J.
europepmc   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Editorial: Sleep in children with rare disorders, volume II. Sleep disturbances in rare neurodevelopmental disorders: a call for deeper understanding. [PDF]

Front Neurol
Spruyt K.
europepmc   +1 more source

Editorial: Sleep in children with rare disorders: Having a sleep problem is not that rare. [PDF]

Front Neurol, 2022
Spruyt K.
europepmc   +1 more source

NORD Guide to rare disorders

, 2003
National Organization for Rare Disorders
core  

Mucocutaneous Disease Activity and Damage Accrual in Systemic Lupus Erythematosus: Analyses From the Asia‐Pacific Lupus Collaboration Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective This research article aims to describe the prevalence, associations, and health‐related quality of life (HRQoL) impact of mucocutaneous features of systemic lupus erythematosus (SLE). Methods Data from the Asia‐Pacific Lupus Collaboration cohort were analyzed (2013–2021).
Amanda M. Saracino, Yanjie Hao, Dylan Hansen, Yi‐Hsing Chen, Alberta Hoi, Vera Golder, Jiacai Cho, Aisha Lateef, Worawit Louthrenoo, Laniyati Hamijoyo, Shue Fen Luo, Yeong‐Jian Jan Wu, Sandra Navarra, Leonid Zamora, Chak Sing Lau, Shirley Chan, Zhanguo Li, Hai‐hong Yao, Sargunan Sockalingam, B. M. D. B. Basnayake, Yasuhiro Katsumata, Masayoshi Harigai, Zhuoli Zhang, Jun Kikuchi, Yuko Kaneko, Tsutomu Takeuchi, Madelynn Chan, Sang‐Cheol Bae, Fiona Goldblatt, Sean O'Neill, Geraldine Hassett, Kristine Ng, Nicola Tugnet, Mark Sapsford, Yih Jia Poh, Michael Tee, Cherica Tee, Naoaki Ohkubo, Yoshiya Tanaka, Rangi Kandane‐Rathnayake, Eric Morand, Shereen Oon, Mandana Nikpour   +42 more
wiley   +1 more source

The Revolution of Genetic Diagnosis: An Example from Rare Disorders. [PDF]

Genes (Basel)
Zampatti S.
europepmc   +1 more source