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Camurati-Engelmann disease – A case report of a rare diaphyseal dysplasia

Journal of Orthopaedic Reports, 2025-09, Vol.4 (3), p.100423, Article 100423

2025

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Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers

Epigenetics, 2024-12, Vol.19 (1), p.2368995

2024

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Genetic admixture predictors of fetal alcohol spectrum disorders (FASD) in a South African population

Gene, 2024-12, Vol.931, p.148854, Article 148854

2024

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Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations

Molecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.65, Article 65

2024

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Pedicle subtraction osteotomy in patient with congenital kyphosis

Egyptian journal of neurosurgery, 2024-12, Vol.39 (1), p.17-5, Article 17

2024

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Pilot study of circulating cell-free mitochondrial DNA in relation to brain structure in youth bipolar disorder

International Journal of Bipolar Disorders, 2024-12, Vol.12 (1), p.21-21

2024

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Downregulation of miR-29a as a possible diagnostic biomarker for schizophrenia

Molecular biology reports, 2024-12, Vol.51 (1), p.617-617, Article 617

2024

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Decreased expression of the NLRP6 inflammasome is associated with increased intestinal permeability and inflammation in obesity with type 2 diabetes

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.77-77, Article 77

2024

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System biology approach to delineate expressional difference in the blood mononuclear cells between healthy and Turner syndrome individuals

The Egyptian journal of medical human genetics, 2024-12, Vol.25 (1), p.23

2024

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Spontaneous dissection of celiacomesenteric trunk with isolated extension and thrombosis in the superior mesenteric artery: a case report and literature review

Egyptian journal of radiology and nuclear medicine, 2024-12, Vol.55 (1), p.32

2024

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Retinoic Acid-Induced 1 gene variants associated with Smith-Magenis syndrome circadian phenotypes enriched in autism spectrum disorder: whole-genome sequencing study

The Egyptian journal of medical human genetics, 2024-12, Vol.25 (1), p.55

Smieszek, Sandra Paulina

2024

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Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality

The Egyptian journal of medical human genetics, 2024-12, Vol.25 (1), p.84

2024

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Congenital cardiac surgery and diaphragmatic paralysis: efficacy of diaphragm plication

The Cardiothoracic Surgeon, 2024-12, Vol.32 (1), p.5-6, Article 5

2024

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Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.36-36, Article 36

2024

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Deep learning enables the quantification of browning capacity of human adipose samples

Journal of big data, 2024-12, Vol.11 (1), p.29-20, Article 29

2024

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A snapshot on introspection of autism spectrum disorder

Molecular biology reports, 2024-12, Vol.51 (1), p.610-610, Article 610

2024

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Craniofacial anthropometric measurements of the cohort of Egyptian male school children and their utility in detection of abnormalities

Bulletin of the National Research Centre, 2024-12, Vol.48 (1), p.31-7, Article 31

2024

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ACE I/D polymorphism in cognitive impairment and depression among North Indian adults: a pilot study

The Egyptian journal of medical human genetics, 2024-12, Vol.25 (1), p.43

2024

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Unlocking the potential of adeno-associated virus in neuroscience: a brief review

Molecular biology reports, 2024-12, Vol.51 (1), p.563-563, Article 563

Minetti, Antea

2024

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Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient

Molecular biology reports, 2024-12, Vol.51 (1), p.216-216, Article 216

2024

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A case control study investigating the methylation levels of GHRL and GHSR genes in alcohol use disorder

Molecular biology reports, 2024-12, Vol.51 (1), p.663-663, Article 663

2024

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SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.5-5, Article 5

2024

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Association between blood mitochondrial DNA copy number and mental disorders: A bidirectional two-sample mendelian randomization study

Journal of affective disorders, 2024-12, Vol.366, p.370-378

2024

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Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients

Molecular biology reports, 2024-12, Vol.51 (1), p.480-480, Article 480

2024

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CircAKT3 alleviates postoperative cognitive dysfunction by stabilizing the feedback cycle of miR-106a-5p/HDAC4/MEF2C axis in hippocampi of aged mice

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.138-138, Article 138

2024

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