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1161
Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review
Published 2025-01-01“…Abstract Background Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. …”
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1162
Advances in chromosomal microarray analysis: Transforming neurology and neurosurgery
Published 2025-01-01“…In neurodevelopmental disorders, CMA aids in diagnosing autism and intellectual disabilities, facilitating early interventions that improve long-term outcomes. …”
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1163
E.V. From ‘Greater’ to ‘Global Britain’: The New and the Old in the Foreign Policy of the United Kingdom
Published 2023-12-01“…At the same time, they have drawn attention of the academic community to similar intellectual endeavors at the turn of the 19th-20th centuries, when British politicians also faced the need for a qualitative reassessment of the empire’s place in the world. …”
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1164
Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary cen...
Published 2025-01-01“…If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism. …”
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1165
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus
Published 2024-01-01“…The following statements reached the highest priority: testing pediatric patients with hypotonia, developmental delay, movement disorders, and oculogyric crises; inclusion of 3-OMD dosing on DBS in neonatal screening programs; development of a clinical score to support patients’ selection for 3-OMD screening; among atypical phenotypes based on clinical characteristics of Italian patients: testing patients with intellectual disability and parkinsonism-dystonia. Discussion. …”
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1166
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1167
New Approaches to Developing the Integral Indicator Methodology for Estimating the Financial Efficiency of Agricultural Entities in Poland, the Republic of Moldova, and EU Countrie...
Published 2019-12-01“…The notion of resource potential means the totality of the volume of all resources (natural, labor, material, intellectual, information, etc.) on specific enterprises, territories, branches, regions. …”
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1168
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function
Published 2016-01-01“…A wide range of clinical findings have been associated with mutations in Syntaxin Binding Protein 1 (STXBP1), including multiple forms of epilepsy, nonsyndromic intellectual disability, and movement disorders. STXBP1 mutations have recently been associated with mitochondrial pathology, although it remains unclear if this phenotype is a part of the core feature for this gene disorder. …”
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1169
Why is it so difficult to understand why we don’t understand human systemic lupus erythematosus? Contemplating facts, conflicts, and impact of “the causality cascade paradigm”...
Published 2025-01-01“…In attempts to understand systemic lupus erythematosus (SLE), we find ourselves in the intellectual cross-point between nosology, pathogenicity-oriented science, philosophy, empiricism, and qualified conjectures. …”
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1170
Ideas of Multipolarity in the Conceptual Frame of the Soviet Diplomacy during the Final Phases of the Great Patriotic war (1943–1945)
Published 2024-01-01“…Particular emphasis is placed on the intellectual contributions of two prominent Soviet diplomats, M.M. …”
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1171
Diplomatic activities of M.M. Litvinov in the USA during the Great Patriotic War (1941–1943)
Published 2024-03-01“…Special attention is paid to his efforts aimed at clarifying the Soviet position on the most sensitive issues of bilateral relations and establishing contacts with various groups of the American political, economic and intellectual elites. The second section analyzes M.M. …”
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1172
PHILOSOPHICAL IDEAS IN SPIRITUAL CULTURE OF THE INDIGENOUS PEOPLES OF NORTH AMERICA
Published 2020-12-01“…In the article, the concept of philosophy is used in a broad sense, which allows the analysis of the intellectual heritage of the culture of the indigenous people of North America for philosophical ideas. …”
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1173
Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm
Published 2013-01-01“…We report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)(p23-pter). …”
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1174
The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders
Published 2025-02-01“…Consistent with these findings, we and others have identified missense variants and microdeletions in the human GlyR α2 subunit gene (GLRA2) in individuals with autism spectrum disorder (ASD), developmental delay (DD) and/or intellectual disability (ID), often accompanied by microcephaly, language delay and epilepsy. …”
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1175
Students’ Perspectives on Learning Practical Nursing Skills: A Focus Group Study in Norway
Published 2021-01-01“…Three focus group interviews were conducted with registered nurse students and intellectual disability nurse students in their last semester (n = 11). …”
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1176
USING A DIDACTIC TOOL WITH IT-SUPPORT FOR TEACHING GEOGRAPHY IN A SPECIAL SCHOOL IN SLOVAKIA
Published 2023-10-01“…The staff of the Department of Special Pedagogy, Catholic University in Ruzomberk (Slovakia), together with teachers of special schools prepared a didactic manual with IT support considering the modern requirements for the level of knowledge and skills of students with intellectual disabilities. The purpose of the manual was to increase the level of success in learning geography. …”
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1177
Orthodontic Treatment and Maxillary Anterior Segmental Distraction Osteogenesis of a Subject with Williams–Beuren Syndrome and Isolated Cleft Palate: A Long-Term Follow-Up from the...
Published 2017-01-01“…WBS patients have characteristic skeletal features and dental anomalies accompanied by mental retardation, a friendly outgoing personality, and mild to moderate intellectual disability or learning problems. In this case report, we present the combined orthodontic and surgical treatment of a WBS patient with an isolated cleft palate through a long-term follow-up from the age of 5 to 24 years. …”
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1178
Reliability, Objectivity, Validity and Reference Levels of the Austrian Balance Check (ABC)—A Novel Balance Field Test for Children, Adolescents and Young Adults to Assess Static B...
Published 2025-01-01“…Balance is a relevant indicator of physical fitness and correlates with intellectual abilities. Due to limited resources, however, balance tests are underrepresented in fitness checks. …”
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1179
A History of The Six-Year Primary Project in the Use of Yoruba as the Medium of Primary Education
Published 2021-12-01“…If a young child is forced to speak in English (or the majority language) when they prefer to speak in their mother tongue, they are also forced to operate at a lower intellectual age than they actually are. Tis can damage the child’s academic future. …”
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1180
RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis
Published 2025-01-01“…Variants in the Rho‐related BTB domain‐containing 2 gene (RHOBTB2) can lead to DEE64, which is characterized by early‐onset epilepsy, varying degrees of motor developmental delay and intellectual disability, microcephaly, and movement disorders. …”
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