Results 241 to 250 of about 306,932 (310)

Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review. [PDF]

Mol Cytogenet
Zhang Y, Yue F, Liu R.
europepmc   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

Successful Vaginal Delivery in a Pregnant Woman With Bernard-Soulier Syndrome: A Case Report. [PDF]

Clin Case Rep
Yaghoubi M, Sabeti N, Hajmollarezaei E.
europepmc   +1 more source

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases. [PDF]

J Inherit Metab Dis
Hulshof EM, Lantinga HP, Alkemade G, Bosch AM, Brands MM, Vliet DD, Haijer-Schreuder AB, Hoytema van Konijnenburg EMM, Janssen MCH, van der Klauw MM, Langeveld M, Lubout CMA, van Ockenburg SL, Oussoren E, Panis B, Sjouke B, de Vries M, Wagenmakers MAEM, Wijnen M, Sival DA, Tijssen MAJ, de Koning TJ, Koens LH.   +22 more
europepmc   +1 more source

Unusual Etiology of Budd-Chiari Syndrome in an Adolescent: A Case of Combined Thrombophilic Disorder. [PDF]

Clin Case Rep
Sah S, Riaz R, Khan A, Yadav T, Lal K, Shah HH.   +5 more
europepmc   +1 more source

The Clinical Burden of Inherited Neurometabolic Disorders in Adults-A Territorial Care Approach. [PDF]

J Clin Med
Orsucci D, Caldarazzo Ienco E, Giuntini M, Vista M.   +3 more
europepmc   +1 more source

Factor XIII Deficiency in a Moroccan Infant: A Case Report of a Rare Bleeding Disorder. [PDF]

Cureus
Mesbah K, El Boussaadni Y, Oulmaati A.
europepmc   +1 more source