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Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey
Published 2025-02-01“…A family history of ILD was asked for by 91% of respondents while fewer asked for symptoms related to telomere disorders. Respondents stated that 59% had access to genetic testing, and 30% to a genetic multidisciplinary team (MDT). …”
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Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report
Published 2025-02-01“…Plain Language Summary Creatine transporter deficiency (CRTR‐D) is a rare genetic disorder causing mental, behavioral, and movement problems. …”
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The Cul3 ubiquitin ligase engages Insomniac as an adaptor to impact sleep and synaptic homeostasis.
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Novel risk loci encompassing genes influencing STAT3, GPCR, and oxidative stress signaling are associated with co-morbid GERD and COPD.
Published 2025-02-01“…Rare variants in ZFP42, encoding key regulators of the IL6/STAT3 pathway, have been previously implicated with GI disorders and were associated with co-morbid GERD and COPD. …”
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Validation of the Food Safe Zone questionnaire for families of individuals with Prader-Willi syndrome
Published 2025-02-01“…Abstract Background Prader-Willi syndrome (PWS), a genetic neurodevelopmental disorder, is characterized by hyperphagia and significant behavioral problems. …”
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A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype
Published 2025-03-01“…Conclusion: The skeletal phenotype may be a syndromic component of this disorder associated with MARS2 intragenic variants.…”
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Bioinformatics screening and clinical validation of CircRNA and related miRNA in male osteoporosis
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Essentials of Pediatric Nursing /
Published 2013Table of Contents: “…Nursing care of the child with a cardiovascular disorder -- Nursing care of the child with a gastrointestinal disorder -- Nursing care of the child with a genitourinary disorder -- Nursing care of the child with a neuromuscular disorder -- Nursing care of the child with a musculoskeletal disorder -- Nursing care of the child with an integumentary disorder -- Nursing care of the child with a hematologic disorder -- Nursing care of the child with an immunologic disorder -- Nursing care of the child with an endocrine disorder -- Nursing care of the child with a neoplastic disorder -- Nursing care of the child with a genetic disorder -- Nursing care of the child with a cognitive or mental health disorder -- Nursing care during a pediatric emergency.…”
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Pediatric Nursing / A case Based Approach
Published 2024Table of Contents: “…Nursing care of the child with a cardiovascular disorder -- Nursing care of the child with a gastrointestinal disorder -- Nursing care of the child with a genitourinary disorder -- Nursing care of the child with a neuromuscular disorder -- Nursing care of the child with a musculoskeletal disorder -- Nursing care of the child with an integumentary disorder -- Nursing care of the child with a hematologic disorder -- Nursing care of the child with an immunologic disorder -- Nursing care of the child with an endocrine disorder -- Nursing care of the child with a neoplastic disorder -- Nursing care of the child with a genetic disorder -- Nursing care of the child with a cognitive or mental health disorder -- Nursing care during a pediatric emergency.…”
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Allele-specific methylation of SSTR4 associated with aging and cognitive functions in patients with schizophrenia.
Published 2025-01-01“…Previous research has suggested a genetic and epigenetic overlap between these two disorders. …”
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Optimasi Fuzzy C-Means dan K-Means Menggunakan Algoritma Genetika untuk Pengklasteran Dataset Diabetic Retinopathy
Published 2020-10-01“…Based on the comparison of Genetic Algorithm Fuzzy C-Means and Genetic Algorithm K-Means iterations, it can be concluded that Genetic Algorithm Fuzzy C-Means has a better number of iteration than Genetic Algorithm K-Means. …”
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ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38
Published 2025-02-01“…Abstract Developmental and epileptic encephalopathy is a rare and severe form of inherited neurodegenerative disorder characterized by various forms of seizures. …”
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Measuring Measuring iron concentration in the blood samples of some autistic children from Baghdad City
Published 2025-01-01“…Possible causes for this condition include specific drugs, genetic disorders, or the dietary habits of the ASD. …”
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GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report
Published 2025-01-01“…Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. …”
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Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review
Published 2025-02-01“…Abstract Background Floating Harbor syndrome (FHS) is a rare genetic disorder with over 100 reported cases worldwide and less than 30 treated with recombinant human growth hormone (rhGH). …”
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Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
Published 2025-01-01“…Abstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. …”
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Rett syndrome complicated by diabetes mellitus type 1
Published 2025-02-01“…A review of her history revealed normal early developmental milestones, including the onset of stereotypical hand movements at 3 years, communication impairment and seizures at 4 years and a diagnosis of autism spectrum disorder. At 10 years of age, genetic testing revealed a pathogenic MECP2 mutation. …”
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Median Mandibular Cleft in SAMS Syndrome – A Rare Case Report
Published 2023-04-01“…Rationale: SAMS syndrome is a rare genetic disorder characterized by midline facial clefting, skeletal anomalies, and other defects. …”
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