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A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family
Published 2024-11-01“…We summarized 45 Japanese cases of HDR syndrome with regard to the mode of onset (familial or sporadic) and the age at diagnosis. In addition, we summarized all previous cases of HDR syndrome with GATA3 gene variants. …”
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Analysis of Age Appropriate Measles Immunisation among the Eligible Children in India: A Cross-Sectional Analysis of National Family Health Survey–5
Published 2025-01-01“…Materials and Methods: Data from the most recent National Family Health Survey (NFHS 5, 2019–2021) were used in the present study. …”
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1464
Cellular Reconstruction of the Rectal Mucosa during surgical Treatment of Familial Adenomatosis of the Colon: 12 Years after the First Experience of Introduction into Clinical Practice
Published 2019-09-01Subjects: “…familial adenomatous polyposis…”
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Functional characterization of endocytic signals in the SynDIG/PRRT family members SynDIG1 and SynDIG4 in heterologous cells and neurons
Published 2025-01-01“…Furthermore, we show that another family member, SynDIG1, is enriched in the trans-Golgi network (TGN) and can traffic between the TGN and plasma membrane. …”
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1467
Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract
Published 2023-01-01“…Methods. Through family investigation, the family members were examined via slit lamp anterior segment imaging and screened for eye and other diseases by eye B-ultrasound. …”
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1468
Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families
Published 2017-01-01“…We report the clinical, haematological, and molecular characteristics of four patients from two unrelated Italian families affected by HX, associated with beta-thalassemia trait and heterozygous pyruvate kinase deficiency, respectively. …”
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1469
On Common Solutions for Fixed-Point Problems of Two Infinite Families of Strictly Pseudocontractive Mappings and the System of Cocoercive Quasivariational Inclusions Problems in Hilbert Spaces
Published 2011-01-01“…This paper is concerned with a common element of the set of common fixed points for two infinite families of strictly pseudocontractive mappings and the set of solutions of a system of cocoercive quasivariational inclusions problems in Hilbert spaces. …”
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Nourishing change in Houston, Texas: exploring grocery shopping behaviours and fruit and vegetable consumption among low-income families in the Brighter Bites program
Published 2025-01-01“…Setting: Three elementary schools serving low-income families in Houston, Texas, in February-May of 2022. …”
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1471
Evaluation of musculoskeletal complaints, treatment approaches, and patient perceptions in family medicine clinics in a tertiary center in Jordan: a cross-sectional study
Published 2025-01-01“…This study evaluates MSK management, gender differences, and patient perceptions in Jordanian family medicine clinics, aiming to improve care strategies and outcomes in similar settings. …”
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Effectiveness of a family-centered psychological intervention program based on spiritual therapy and cognitive behavioral therapy on the lifestyle of patients with type 2 diabetes
Published 2025-01-01“… Background: The aim of the present study was to design and validate a family-centered psychological intervention program based on spiritual therapy and cognitive behavioral therapy and its effectiveness on the lifestyle of patients with type 2 diabetes. …”
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Exploring the quality of end-of-life care in the intensive care unit: a qualitative multiple case study approach with family members of Muslim patients
Published 2025-01-01“…The aim of this study was to explore the quality of end-of-life care in the intensive care unit (ICU) from the perspective of next-of-kin family members of Muslim patients.Design A qualitative multiple case study design using semistructured interviews with family members of Muslim patients. …”
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Enhancing Patient Care Through Structured Assessment Of Supracondylar Fractures: A Quality Improvement Project At Holy Family Hospital, Rawalpindi Medical University
Published 2024-09-01“…Methods: This QIP was conducted in two cycles at Department of Orthopedic Surgery, Holy Family Hospital from October 2022 to October 2023. …”
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A<small.letters>po</small.letters>E Polymorphism is Associated With C-Reactive Protein in Low-HDL Family Members and in Normolipidemic Subjects
Published 2006-01-01“…The concentrations of serum hsCRP, sVCAM-1, sICAM-1, and sE-selectin were measured in 211 subjects from Finnish low-HDL families and in 157 normolipidemic subjects. The subjects with apoE4 isoform had lower concentrations of serum hsCRP both in low-HDL family members (<mml:math> <mml:mi>p</mml:mi><mml:mo><</mml:mo><mml:mn>0.05</mml:mn> </mml:math>) and in normolipidemic subjects (<mml:math> <mml:mi>p</mml:mi><mml:mo><</mml:mo><mml:mn>0.01</mml:mn> </mml:math>). …”
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Generalized Mixed Equilibrium Problems and Fixed Point Problem for a Countable Family of Total Quasi-ϕ-Asymptotically Nonexpansive Mappings in Banach Spaces
Published 2012-01-01“…The purpose of this paper is first to introduce the concept of total quasi-ϕ-asymptotically nonexpansive mapping which contains many kinds of mappings as its special cases and then to use a hybrid algorithm to introduce a new iterative scheme for finding a common element of the set of solutions for a system of generalized mixed equilibrium problems and the set of common fixed points for a countable family of total quasi-ϕ-asymptotically nonexpansive mappings. …”
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A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
Published 2023-01-01“…Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. …”
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