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Last Updated: 01/07/2026
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Found 6036 publications
Pediatric pneumological aspects in the care of children with Down Syndrome
Journal: Klinische Padiatrie
Published: December 11, 2025
Neurofibromatosis review with focus on rehabilitation intervention.
Journal: Current problems in pediatric and adolescent health care
Published: November 30, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
From unexplained hypotonia to screen-positive spinal muscular atrophy: why standardized clinical assessment matters.
Journal: European journal of pediatrics
Published: November 14, 2025
Paroxysmal Hypotonia in PRRT2-Related Paroxysmal Diseases.
Journal: Neurology
Published: November 12, 2025
Respiratory and lung diseases in patients with Down Syndrome
Journal: Pneumologie (Stuttgart, Germany)
Published: November 11, 2025
Neurodevelopmental Disorder with Psychomotor Delay, Hearing Loss, and Spasticity Caused by Compound Heterozygous SPATA5L1 Variants-Expanding Phenotype.
Journal: Journal of clinical medicine
Published: November 07, 2025
Dental Management of a Child With Temtamy Syndrome: A Case Report.
Journal: Cureus
Published: November 05, 2025
DBR1 Gene Mutation: Pathogenicity in the Homozygous State and Its Phenotype in Two Siblings.
Journal: Clinical genetics
Published: November 04, 2025
Inevitable Posterior Lower Segment Cesarean Section Due to Irreducible Uterine Torsion in a Woman Carrying X-Linked Myotubular Myopathy: A Case Report.
Journal: Cureus
Published: October 30, 2025
Growth hormone treatment in adults with Prader-Willi syndrome: an update.
Journal: Expert review of endocrinology & metabolism
Published: October 28, 2025
Last Updated: 01/07/2026