Results 171 to 180 of about 3,349,140 (303)

Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome. [PDF]

Neurol Genet
Van Steenbergen A, Kaur M, Rubanarayana K, Bolduc F.   +3 more
europepmc   +1 more source

The genomic landscape of rare disorders in the Middle East. [PDF]

Genome Med, 2023
El Naofal M, Ramaswamy S, Alsarhan A, Nugud A, Sarfraz F, Janbaz H, Taylor A, Jain R, Halabi N, Yaslam S, Alfalasi R, Shenbagam S, Rabea F, Bitzan M, Yavuz L, Wafadari D, Abulhoul H, Shankar S, Al Maazmi M, Rizk R, Alloub Z, Elbashir H, Babiker MOE, Chencheri N, AlBanna A, Sultan M, El Bitar M, Kherani S, Thalange N, Alshryda S, Di Donato R, Tzivinikos C, Majid I, Freeman AF, Gonzalez C, Khan AO, Hamdan H, Abuhammour W, AlAwadhi M, AlKhayat A, Alsheikh-Ali A, Abou Tayoun AN.   +41 more
europepmc   +1 more source

IFLA Rare Books and Special Collections Section events at WLIC 2016

, 2016
The 2016 WLIC in Columbus, Ohio, is almost upon us and the Rare Books and Special Collections Section invites you to join our programme of events during the Congress.
IFLA Rare Books & Special Collections Section
core  

Inebilizumab in AQP4‐Seropositive NMOSD: One‐Year Follow‐Up From a Multicenter, Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Real‐world evidence on inebilizumab among neuromyelitis optica spectrum disorder (NMOSD) patients is lacking. This study assessed inebilizumab among Chinese patients with aquaporin 4 autoantibody (AQP4‐IgG)‐seropositive NMOSD in a real‐world setting.
Mengcui Gui, Jiayang Zhan, Wei Li, Tao Jin, Dan He, Daishi Tian, Zhijun Li, Jing Lin, Yue Li, Hongyu Zhou, Bitao Bu   +10 more
wiley   +1 more source

Author Correction: Complex de novo structural variants are an underestimated cause of rare disorders. [PDF]

Nat Commun
Jung H, Yang TP, Walker S, Danecek P, Garcia-Salinas OI, Neville MDC, Christopher J, Cortés-Ciriano I, Firth H, Scally A, Hurles M, Campbell P, Rahbari R.   +12 more
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Directory of Rare Book and Special Collections in the United Kingdom and the Republic of Ireland, 3rd edition, now available!

, 2016
Facet Publishing have announced the release of the 3rd edition of the Directory of Rare Book and Special Collections in the United Kingdom and the Republic of Ireland.
IFLA Rare Books & Special Collections Section
core  

Changes in Immune‐Inflammation Status and Prognosis in Pregnancy‐Related Cerebral Venous Thrombosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Distinguishing pathological changes from physiological adaptations in pregnancy‐related cerebral venous thrombosis (CVT) is clinically challenging. This study aimed to characterize coagulation, immune‐inflammation, and dehydration status in these patients and assess their prognostic value.
Xiaoming Zhang, Zilin Xu, Ran Duan, Chunxiao Lu, Da Zhou, Chen Zhou, Ran Meng, Xunming Ji   +7 more
wiley   +1 more source

Thyrotoxicosis and Moyamoya Syndrome: A Fatal Intersection of Rare Disorders in a Young Patient With a Background of Hypothyroidism. [PDF]

Cureus
Abu Rabia H.
europepmc   +1 more source

The Quebec Dental Anomalies Registry: Identifying genes for rare disorders. [PDF]

PNAS Nexus, 2023
Wredenhagen MS, Goldstein A, Mathieu H, Miranda V, Morali B, Santerre J, Maftei C, Delrue MA, Schmittbuhl M, Vu DD, Moldovan F, Campeau PM.   +11 more
europepmc   +1 more source