Robert Smigiel

prof.

Wroclaw Medical University

Poland

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Articles (17)

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2024

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2024

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2024

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2024

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2024

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2023

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2023

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2023

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2023

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2023

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2022

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2022

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2022

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2022

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2022

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2022

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2021

Collaborators (16)

Justyna Paprocka

Medical University of Silesia

POLAND

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Bożena Marszałek-Kruk

Wroclaw University of Environmental and Life Sciences

POLAND

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Barbara Steinborn

Prof.

Poznan University of Medical Sciences

POLAND

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Dariusz Patkowski

Head

Uniwersytet Medyczny im Piastów Śląskich we Wrocławiu

POLAND

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Justyna Karolak

Poznan University of Medical Sciences

POLAND

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Sally Ann Lynch

IRELAND

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Aleksandra Jezela-Stanek

National Tuberculosis and Lung Diseases Research Institute

POLAND

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Andrew Yung Fong Li Yim

Assistant Professor

Amsterdam University Medical Centers

NETHERLANDS

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Tomasz Szczapa

Poznan University of Medical Sciences

POLAND

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Krzysztof Dowgierd

University of Warmia and Mazury

POLAND

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Rinze F Neuteboom

Erasmus University Medical Center

NETHERLANDS

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Andreas Tzschach

University Medical Center Freiburg

GERMANY

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Agnieszka Szlagatys-Sidorkiewicz

Medical University of Gdansk

POLAND

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Anna Kutkowska-Kaźmierczak

Instytut Matki i Dziecka

POLAND

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Ploski R

POLAND

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Piotr Wojcicki

Prof.dr hab.

Wroclaw Medical University

POLAND

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Robert Smigiel

Research Interests

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Articles (17)

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

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

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

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

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

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

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

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

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

Epigenetic Findings in Twins with Esophageal Atresia

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

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

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

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

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

Spectrum of neurological symptoms in glycosylphosphatidylinositol biosynthesis defects: systematic review

Treacher Collins Syndrome: Genetics, Clinical Features and Management

Collaborators (16)

Justyna Paprocka

Bożena Marszałek-Kruk

Barbara Steinborn

Dariusz Patkowski

Justyna Karolak

Sally Ann Lynch

Aleksandra Jezela-Stanek

Andrew Yung Fong Li Yim

Tomasz Szczapa

Krzysztof Dowgierd

Rinze F Neuteboom

Andreas Tzschach

Agnieszka Szlagatys-Sidorkiewicz

Anna Kutkowska-Kaźmierczak

Ploski R

Piotr Wojcicki

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