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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

S. Bittmann

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Review Open access Aug 2026

From a Recurrent FGFR3 Variant to Isoform-Selective Kinase Inhibition: A Critical Appraisal of Targeted Therapy in Paediatric Achondroplasia

Achondroplasia arises almost invariably from a single recurrent gain-of-function variant in the gene encoding fibroblast growth factor receptor 3, and has therefore become a reference case for genotype-directed drug development in paediatric rare disease. Within five years the field has moved from a single approved sub...

S. Bittmann, E. Luchter, Elena Moschuring-Alieva · 0 citations
Review Open access Aug 2026

In Utero Epigenetic Programming of the Fetal Genome: A Critical Synthesis of Maternal Nutritional, Environmental and Psychosocial Influences

Epigenetic evidence can clarify biological embedding of prenatal conditions, but it should not be interpreted as deterministic or used to individualise responsibility for structurally patterned maternal exposures.

S. Bittmann, E. Luchter, E. Moschuring-Alieva · 0 citations
Review Open access Aug 2026

Artificial Intelligence in the Analysis of the Fetal Genome in Utero: A Critical Review of Current Paradigms, Clinical Utility and Future Horizons

This critical narrative review evaluates the strength, consistency and clinical relevance of the evidence supporting methods when they are applied specifically to the genome of a fetus in utero.

S. Bittmann, E. Luchter, E. Moschüring-Alieva · 0 citations
Review Open access Aug 2026

Early Prenatal Detection of Fetal Genetic Mutations and Epigenetic Alterations: A Critical Appraisal of Liquid Biopsy Methodologies and Paediatric Implications

This critical narrative review evaluates the state of knowledge on early prenatal detection of fetal genetic variants and epigenetic alterations through maternal blood sampling, and appraises the paediatric implications of an expanding prenatal detection frontier.

S. Bittmann, E. Luchter, Elena Moschuring-Alieva · 0 citations
Review Open access Jul 2026

Childhood Cystic Fibrosis in the Era of Highly Effective Modulator Therapy: A Critical Narrative Review of Diagnosis, Multisystem Disease and Evolving Management

It is concluded that childhood CF is being transformed rather than solved, and that surveillance, nutritional and psychosocial frameworks developed in the pre-modulator era require deliberate re-evaluation rather than uncritical continuation.

S. Bittmann, E. Luchter, E. Moschüring-Alieva · 0 citations
#gene editing Review Open access Aug 2026

Non-invasive Ultra-early in Utero Detection and Precision CRISPR-mediated Correction of Monogenic Embryonic Mutations: A Critical Appraisal of a Hypothetical Therapeutic Framework

Whether that proposition that a pathogenic single-gene variant might be identified non-invasively at the earliest stage of pregnancy and corrected in situ before irreversible pathology develops is presently coherent as a therapeutic framework is examined.

S. Bittmann, E. Luchter, E. Moschüring-Alieva · 0 citations
#gene editing Review Open access Aug 2026

Osteogenesis Imperfecta from Historical Nosology to Gene-directed Therapy: A Critical Narrative Review of Mechanism, Evidence and Translational Uncertainty

Evaluating critically how historical nosology, molecular pathology and emerging gene-directed interventions relate to one another is evaluated, and to determine which conclusions the accessible evidence can currently sustain are evaluated.

S. Bittmann, E. Luchter, E. Moschüring-Alieva · 0 citations
Review Open access Aug 2026

Severe Epilepsy Syndromes in Childhood: A Comprehensive Review of Clinical Features, Etiologies, and Advancing Therapeutic Landscapes

This critical narrative review synthesises evidence on the clinical features, aetiologies, and therapeutic options for these syndromes, and evaluates the strength, consistency, and limitations of that evidence rather than cataloguing individual studies.

S. Bittmann, E. Luchter, E. Moschuring-Alieva · 0 citations

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