Robert Smigiel at Wroclaw Medical University - Research Interests, Publications & Academic Profile

Robert Smigiel

prof.

Wroclaw Medical University

Poland

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Research Interests

Pediatric Nutrition

90%

Neurology

50%

Neurodevelopmental Disorders

80%

Medical Science

80%

Rare Disease

70%

Pediatric

50%

Birth Defect

40%

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Articles17

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia

Article Link

Year:

2024

Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome

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Year:

2024

The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)—A Report of Three Cases, Including Twins

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Year:

2024

From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning

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Year:

2024

An international collaborative initiative to establish a quality-of-life questionnaire for children and adolescents with repair of esophageal atresia in 14 countries

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Year:

2024

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients

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Year:

2023

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

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Year:

2023

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

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Year:

2023

Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease

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Year:

2023

Epigenetic Findings in Twins with Esophageal Atresia

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Year:

2023

Quality of Life in Children with Prader–Willi Syndrome and the Impact of the Disease on the Functioning of Families

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Year:

2022

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

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Year:

2022

Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation

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Year:

2022

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

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Year:

2022

Further delineation of developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities caused by ZNF699 gene mutation

Article Link

Year:

2022

Spectrum of neurological symptoms in glycosylphosphatidylinositol biosynthesis defects: systematic review

Article Link

Year:

2022

Treacher Collins Syndrome: Genetics, Clinical Features and Management

Article Link

Year:

2021

Collaborators15

Justyna Paprocka

Medical University of Silesia

POLAND

Bożena Marszałek-Kruk

Wroclaw University of Environmental and Life Sciences

POLAND

Barbara Steinborn

Prof.

Poznan University of Medical Sciences

POLAND

Justyna Karolak

Poznan University of Medical Sciences

POLAND

Sally Ann Lynch

IRELAND

Aleksandra Jezela-Stanek

National Tuberculosis and Lung Diseases Research Institute

POLAND

Andrew Yung Fong Li Yim

Assistant Professor

Amsterdam University Medical Centers

NETHERLANDS

Tomasz Szczapa

Poznan University of Medical Sciences

POLAND

Krzysztof Dowgierd

University of Warmia and Mazury

POLAND

Rinze F Neuteboom

Erasmus University Medical Center

NETHERLANDS

Andreas Tzschach

University Medical Center Freiburg

GERMANY

Agnieszka Szlagatys-Sidorkiewicz

Medical University of Gdansk

POLAND

Anna Kutkowska-Kaźmierczak

Instytut Matki i Dziecka

POLAND

Ploski R

POLAND

Piotr Wojcicki

Prof.dr hab.

Wroclaw Medical University

POLAND

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