Results 141 to 150 of about 64,340 (272)

SURGERY OF STRABISMUS IN THE ORTHOPTIC PLEOPTIC SECTION OF THE DEPARTMENT OF OPHTALMOLOGY

Zdravniški Vestnik, 2003
Background. Since 1996 there have been 446 patients (107 adults) operated for strabismus. This retrospective study (retrospection) indicated that out of those 107 adults 22 of them suffer from convergent concomitant strabismus, 29 from convergent ...
Marija Vukan-Rudolf
doaj  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Marx's Concept of Justice: Disambiguating Capitalist and Communist Justice

Journal of Social Philosophy, EarlyView.
Gregory Slack
wiley   +1 more source

Behavioral Phenotype and Neuropsychological Profile of an Adult With Smith‐Magenis Syndrome due to a Previously Unreported RAI1 Mutation: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Smith‐Magenis Syndrome (SMS) is an uncommon genetic disorder caused by microdeletions of chromosome 17p11.2 including the RAI1 gene, or loss‐of‐function mutations that directly affect RAI1. Due to the involvement of RAI1 in neurodevelopment, SMS leads to typical pathologic features in the behavioral and physical phenotype that must be ...
Edgar Andrés Chavarría‐Martínez, Julen Arellano‐Sandúa, Ruth Arias‐Hidalgo, Ana Patiño‐García, Adrián Cano‐Prous   +4 more
wiley   +1 more source

Long‐Term Follow‐Up of Patients With Transaldolase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Transaldolase (TALDO) deficiency has a well‐characterized phenotype. However, there are few large cohort studies, and little is known about the long term, including the need for organ transplantation. Our aim was to share a long multicenter experience in managing these patients.
M. Scaglione, A. Brassier, A. Wiedemann, I. Jankowska, J. Pawłowska, T. Lamireau, L. Bridoux‐Henno, C. Douillard, T. Casswall, U. Cucinotta, M. Gaschignard, P. Socha, F. Feillet, B. Fischler, D. Samara‐Boustani, M. C. Schiaffino, M. Schiff, P. De Lonlay, F. Lacaille   +18 more
wiley   +1 more source

Epilepsy Phenotype and EEG Finding of Rhythmic High‐Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen, Chiadika Nwanze, Cesar Alves, Lance Rodan, Anna Lecticia Pinto, Melissa A. Walker, Irina Anselm, Phillip L. Pearl   +7 more
wiley   +1 more source

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 982-984, April 2026.
Carli Loubser, Shahida Moosa
wiley   +1 more source

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
A rare homozygous variant in the PGM2L1 gene (NM_173582.6: c.1673delC, p.Thr558Ilefs*19) was identified in a patient presenting with developmental delay, seizures, and bilateral frontotemporal subarachnoid widening. ABSTRACT Background PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical ...
Mengmeng Niu, Dong Wang, Shanshan Jia
wiley   +1 more source

Critical Camp Studies: A State of the Art

Population, Space and Place, Volume 32, Issue 2, March 2026.
ABSTRACT Scholarship on camps is extensive yet highly fragmented, structured around disciplinary, geographical, and theoretical silos that rarely enter into sustained dialogue. While numerous studies and literature reviews have examined camps through specific lenses (humanitarian governance, sovereignty, biopolitics, architecture) no comprehensive ...
Alex T. Fusco
wiley   +1 more source

A review of angle kappa and multifocal intraocular lenses and their effect on visual outcomes

Acta Ophthalmologica, Volume 104, Issue 2, Page e122-e138, March 2026.
Abstract Although most patients are satisfied with their vision after multifocal intraocular lens (IOL) implantation, dissatisfaction has been reported for various reasons, including poor visual outcomes and visual disturbances. Many published reports hypothesise that preoperative angle kappa may be an associated factor in patient dissatisfaction ...
Thomas Kohnen, Viswanathan Ramasubramanian, Rajaraman Suryakumar   +2 more
wiley   +1 more source