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701
Perspectives on adapting a mobile application for pain self-management in neurofibromatosis type 1: results of online focus group discussions with individuals living with neurofibr...
Published 2022-07-01“…Objective Neurofibromatosis type 1 (NF1) is a genetic disorder in which chronic pain commonly occurs. …”
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702
Observational study protocol: the faecal microbiome in the acute stage of new-onset paediatric type 1 diabetes in an Irish cohort
Published 2025-01-01“…Introduction Type 1 diabetes (T1D) is an autoimmune-mediated disorder caused by the destruction of pancreatic beta cells. …”
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703
Unravelling the TCRβ repertoire: a key to unlocking the immunopathogenesis and precision medicine in SLE
Published 2025-01-01“…Objectives SLE is a multifaceted autoimmune disorder with a complex pathogenesis involving genetic, environmental and hormonal factors, which converge on immune dysregulation. …”
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704
A Case of Status Epilepticus in a Patient Experiencing an Acute Attack of Hereditary Angioedema
Published 2025-01-01“…Introduction: Hereditary angioedema (HAE) is a genetic disorder associated with recurrent episodes of angioedema in the absence of urticaria and pruritus. …”
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705
Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome
Published 2025-01-01“…Abstract Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. …”
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706
Understanding Obesity and the Role of Pharmacological Treatments: Insights for Health and Fitness Enthusiasts
Published 2025-02-01“… Obesity results from disruptions in the regulation of body weight, driven by complex interactions between genetic and environmental factors. Genetic forms, such as monogenic and syndromic obesity, are rare but severe conditions often presenting with early-onset obesity, eating disorders, and a range of comorbidities. …”
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707
Obstetrics and Gynecology /
Published 2006Table of Contents: “…Premature rupture of membranes -- Obstetric procedures -- Contraception -- Sterilization -- Vulvitis and vaginitis -- Sexually transmitted diseases -- Pelvic relaxation, urinary incontinence, and urinary tract infection -- Endometriosis -- Dysmenorrhea and chronic pelvic pain -- Disorders of the breast -- Gynecologic procedures -- Reproductive cycle -- Puberty -- Amenorrhea and dysfunctional uterine bleeding -- Hirsutism and virilization -- Menopause -- Infertility -- Premenstrual syndrome/premenstrual dysphoric disorder -- Cell biology and principles of cancer therapy -- Gestational trophoblastic neoplasia -- Vulvar and vaginal disease and neoplasia -- Cervical neoplasia and carcinoma -- Uterine leiomyoma and neoplasia -- Endometrial hyperplasia and cancer -- Ovarian and adnexal disease -- Human sexuality -- Sexual assault and domestic violence.…”
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708
Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease
Published 2015-01-01“…It is considered to be congenital (genetic) cardiomyopathy. It is usually associated with genetic disorders and that could explain the genetic pathogenesis of the non-compaction cardiomyopathy. …”
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709
A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2
Published 2018-01-01“…Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. …”
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710
Antidepressant Treatment Response Prediction With Early Assessment of Functional Near-Infrared Spectroscopy and Micro-RNA
Published 2025-01-01“…While functional near-infrared spectroscopy (fNIRS) had previously been suggested for major depressive disorder (MDD) diagnosis, the clinical application to predict antidepressant treatment response (ATR) is still unclear. …”
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711
Insulinomas: Comprehensive Review of Epidemiology, Pathophysiology, Clinical Manifestations, Diagnostic Approaches, and Treatment Options
Published 2025-01-01“…Insulinomas can be sporadic or associated with Multiple Endocrine Neoplasia Type 1 (MEN-1) syndrome, a genetic disorder caused by mutations in the MEN1 gene. …”
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712
Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome
Published 2025-01-01“…Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. …”
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713
Machine learning-driven identification of critical gene programs and key transcription factors in migraine
Published 2025-01-01“…Abstract Background Migraine is a complex neurological disorder characterized by recurrent episodes of severe headaches. …”
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714
The Prevalence and Diagnostic Ratio of Familial Hypercholesterolemia (FH) and Proportion of Acute Coronary Syndrome in Japanese FH Patients in a Healthcare Record Database Study
Published 2020-01-01“…Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C). …”
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715
The Batten disease gene Cln3 is required for the activation of intestinal stem cell during regeneration via JAK/STAT signaling in Drosophila
Published 2025-01-01“…CLN3 mutation causes Juvenile neuronal ceroid lipofuscinosis (JNCL, also known as Batten disease), an early onset neurodegenerative disorder. Patients who suffer from Batten disease often die at an early age. …”
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716
Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study
Published 2024-12-01“…Background/Objectives: 22q11.2 microdeletion syndrome (22q11DS) is a genetic disease caused by aberration of chromosome 22 that results in some phenotypic features and developmental disorders. …”
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717
Pregnancy in Sickle Cell Disease Is a Very High-Risk Situation: An Observational Study
Published 2016-01-01“…Sickle cell disease is a serious genetic disorder affecting 1/235 births in French Guiana. …”
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718
Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria
Published 2025-01-01“…ABSTRACT Homocystinuria due to cystathionine beta‐synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. …”
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719
Hepatic and renal functions of paediatric patients with thalassaemia: a cross-sectional study from two large thalassaemia centres in Sri Lanka
Published 2025-02-01“…Objectives Thalassaemia is a genetic disorder of haemoglobin synthesis characterised by life-long chronic anaemia. …”
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720
A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report
Published 2013-01-01“…Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an α-galactosidase A deficiency resulting in globotriaosylceramide storage within cells. …”
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