Results 161 to 170 of about 3,780 (251)

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Unilateral Idiopathic Retinal Venous Beading. [PDF]

Turk J Ophthalmol
Karslıoğlu E, Sarıgül Sezenöz A, Yılmaz G.   +2 more
europepmc   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

Clinical practice guideline for anterior segment dysgenesis. [PDF]

Jpn J Ophthalmol
Research on rare and intractable diseases, Health, Labour and Welfare Sciences Research Grants Clinical Practice Guideline Development Committee for Aniridia of the “Research group on establishing standardized diagnosis and treatment of Intractable corneal diseases”.   +2 more
europepmc   +1 more source

Expanded characterization of the valproic acid zebrafish larval model of autism spectrum disorder: Insights into dysregulation in the gut

Animal Models and Experimental Medicine, EarlyView.
Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius, Johanna Adriana Coetzee, Alexio Pedro dos Santos, Carine Smith   +3 more
wiley   +1 more source

Surgical intervention versus conservative management in optic disc pit maculopathy. [PDF]

Int J Ophthalmol
Dobbels Z, Carlà MM, Bokri N, Bonnin S, Lejoyeux R, Couturier A.   +5 more
europepmc   +1 more source

Axially Chiral Nonalternant Polycyclic Aromatic Hydrocarbon With Consecutive Pentagons Exhibiting Large Spin‐Polarized Current

Angewandte Chemie, EarlyView.
Here we report two nonalternant polycyclic aromatic hydrocarbons (PAH) (1 and 2), which contain two and four consecutive pentagons, respectively. Under acidic conditions, 1 and 2 dimerize to afford the axially chiral dimers AC1 and AC2. The central azulene moiety in both 2 and AC2 shows an unusually short transannular bond of 1.366 Å.
Chang Wang, Jiaxin Luo, Haipeng Lu, Junzhi Liu   +3 more
wiley   +1 more source

Asymmetric Bilateral Axenfeld-Rieger Anomaly Misdiagnosed as Unilateral Iridocorneal Endothelial Syndrome. [PDF]

Cureus
Satish N, Sethi S.
europepmc   +1 more source

Synergistic Effect on Enhanced Oil Recovery in High Salinity Carbonate Reservoirs Using a Novel PEI‐Functionalized Carbon Nanotube Nanocomposite

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Enhancing oil recovery (EOR) in mature reservoirs is hindered by high interfacial tension (IFT) and oil‐wet rock formations, especially under harsh, high‐salinity conditions. This study aims to overcome these limitations by synthesizing a novel carbon nanotube nanocomposite covalently grafted with polyethylenimine and non‐covalently ...
Mohamed Abu Shuheil, Dilipkumar S. Patel, N. Beemkumar, Tariq Abdulkader Alrihaim, Dhirendra Nath Thatoi, Ripendeep Singh, Rohit Kumar, Parminder Singh, Ahmad Khalid   +8 more
wiley   +1 more source

A True Double Optic Disc. [PDF]

Case Rep Ophthalmol Med
Tekerek M, Demir N.
europepmc   +1 more source