Robert S. Smigiel

Robert S. Smigiel

Wroclaw, DS, Poland

Last Updated: 09/26/2026

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Found 139 publications

Dysmorphic syndromes with overgrowth - systematic review, part 2: chromosomal and epigenetic disorders and disorders associated with dynamic mutations.

Dysmorphic syndromes with overgrowth - systematic review, part 2: chromosomal and epigenetic disorders and disorders associated with dynamic mutations.

Journal: Pediatric endocrinology, diabetes, and metabolism
Published: April 23, 2026

Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.

Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.

Journal: Frontiers in endocrinology
Published: April 17, 2026

TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report.

TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report.

Journal: BMC pediatrics
Published: March 05, 2026

Complex mosaic form of trisomy chromosome 18 and monosomy chromosome X in a girl with esophageal atresia and mild developmental delay: Diagnostic and therapeutic challenge and a review of literature.

Complex mosaic form of trisomy chromosome 18 and monosomy chromosome X in a girl with esophageal atresia and mild developmental delay: Diagnostic and therapeutic challenge and a review of literature.

Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University
Published: February 12, 2026

HEALTH-RELATED QUALITY OF LIFE FOLLOWING THORACOSCOPIC REPAIR IN CHILDREN WITH LONG-GAP ESOPHAGEAL ATRESIA.

HEALTH-RELATED QUALITY OF LIFE FOLLOWING THORACOSCOPIC REPAIR IN CHILDREN WITH LONG-GAP ESOPHAGEAL ATRESIA.

Journal: Journal of pediatric surgery
Published: January 15, 2026

The results of CNVs analysis in patients with neurodevelopmental delay, dysmorphic features and congenital defects.

The results of CNVs analysis in patients with neurodevelopmental delay, dysmorphic features and congenital defects.

Journal: Journal of applied genetics
Published: December 18, 2025

Pituitary Magnetic Resonance Imaging as a Prognostic Factor of Pituitary Insufficiency-The Follow-Up Analysis of a Cohort of Children With Pituitary Stalk Interruption Syndrome.

Pituitary Magnetic Resonance Imaging as a Prognostic Factor of Pituitary Insufficiency-The Follow-Up Analysis of a Cohort of Children With Pituitary Stalk Interruption Syndrome.

Journal: Clinical endocrinology
Published: December 17, 2025

Neurodevelopmental Disorder with Psychomotor Delay, Hearing Loss, and Spasticity Caused by Compound Heterozygous SPATA5L1 Variants-Expanding Phenotype.

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

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation
Published: November 03, 2025

Updating guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD) in Poland.

Updating guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD) in Poland.

Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University
Published: October 31, 2025

Correction: Marszałek-Kruk et al. Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes 2021, 12, 1392.

Correction: Marszałek-Kruk et al. Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes 2021, 12, 1392.

Journal: Genes
Published: October 20, 2025

Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development.

Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development.

Journal: Journal of clinical medicine
Published: October 16, 2025
Showing 1-12 of 139

Last Updated: 09/26/2026