Smigiel Robert (Robert Smigiel, Robert Śmigiel)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 33

Top Venues

Genes

International journal of environmental research and public health

Journal of clinical medicine

Molecular genetics & genomic medicine

Wroclaw Medical University

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Wroclaw Medical University Oct 01 2014

Poland

prof. :: Dep of Pediatrics, Division of Pediatric and Rare Disorders

Publications

Marlena Telenga, Anna Rozensztrauch, Kaja Giżewska-Kacprzak, Smigiel Robert
From Genotype to Phenotype of Polish Patients with Pitt-Hopkins Syndrome concerning the Quality of Life and Family Functioning. Journal of clinical medicine 13 (9) (2024)
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Paweł Karpiński, Joanna Bladowska, Ploski Rafal, Smigiel Robert
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome. Genes 15 (2) (2024)
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Paweł Karpiński, Joanna Bladowska, Ploski Rafal, Smigiel Robert
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome. Genes 15 (2) (2024)
Alicja Leśniak, Marta Glińska, Michał Patalan, Iwona Ostrowska, Monika Świrska-Sobolewska, Kaja Giżewska-Kacprzak, Agata Kotkowiak, Anna Leśniak, Mieczysław Walczak, Smigiel Robert, Maria Giżewska
The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins. Genes 15 (8) (2024)
Alicja Leśniak, Marta Glińska, Michał Patalan, Iwona Ostrowska, Monika Świrska-Sobolewska, Kaja Giżewska-Kacprzak, Agata Kotkowiak, Anna Leśniak, Mieczysław Walczak, Smigiel Robert, Maria Giżewska
The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins. Genes 15 (8) (2024)
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Paweł Karpiński, Joanna Bladowska, Ploski Rafal, Smigiel Robert
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome. Genes 15 (2) (2024)
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Paweł Karpiński, Joanna Bladowska, Ploski Rafal, Smigiel Robert
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome. Genes 15 (2) (2024)
Marlena Telenga, Anna Rozensztrauch, Kaja Giżewska-Kacprzak, Smigiel Robert
From Genotype to Phenotype of Polish Patients with Pitt-Hopkins Syndrome concerning the Quality of Life and Family Functioning. Journal of clinical medicine 13 (9) (2024)
Aleksandra Bodetko, Joanna Chrzanowska, Malgorzata Rydzanicz, Agnieszka Borys-Iwanicka, Paweł Karpiński, Joanna Bladowska, Ploski Rafal, Smigiel Robert
Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome. Genes 15 (2) (2024)
Anna Rozensztrauch, Izabela Dzien, Smigiel Robert
Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease. Journal of clinical medicine 12 (5) (2023)
Justyna Paprocka, Aleksandra Jezela-Stanek, Smigiel Robert, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Ploski Rafal, Ewa Emich-Widera, Barbara Steinborn
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients. Genes 14 (5) (2023)
Michal Błoch, Piotr Gasperowicz, Sylwester Gerus, Katarzyna Rasiewicz, Arleta Lebioda, Pawel Skiba, Rafal Płoski, Dariusz Patkowski, Paweł Karpiński, Smigiel Robert
Epigenetic Findings in Twins with Esophageal Atresia. Genes 14 (9) (2023)
Anna Rozensztrauch, Izabela Dzien, Smigiel Robert
Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease. Journal of clinical medicine 12 (5) (2023)
Klaniewska Magdalena, Bolanowska-Tyszko Anna, Latos-Bielenska Anna, Jezela-Stanek Aleksandra, Szczaluba Krzysztof, Krajewska-Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz-Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert
Clinical heterogeneity of polish patients with KAT6B-related disorder. Molecular genetics & genomic medicine (2023)
Izabela M Krzyzewska, Peter Lauffer, Adri N Mul, Liselot van der Laan, Andrew Y F Li Yim, Jan Maarten Cobben, Jacek Niklinski, Monika A Chomczyk, Smigiel Robert, Marcel M A M Mannens, Peter Henneman
Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD). International journal of molecular sciences 24 (7) (2023)
Anna Rozensztrauch, Smigiel Robert
Quality of Life in Children with Prader-Willi Syndrome and the Impact of the Disease on the Functioning of Families. International journal of environmental research and public health 19 (23) (2022)
Anna Rozensztrauch, Smigiel Robert
Quality of Life in Children with Prader-Willi Syndrome and the Impact of the Disease on the Functioning of Families. International journal of environmental research and public health 19 (23) (2022)
Anna Rozensztrauch, Smigiel Robert
Quality of Life in Children with Prader-Willi Syndrome and the Impact of the Disease on the Functioning of Families. International journal of environmental research and public health 19 (23) (2022)
Maike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Smigiel Robert, Alka Malhotra, Donald Basel, Ingrid M B H van de Laar, Rinze Frederik Neuteboom, Coranne Aarts-Tesselaar, Sonal Mahida, Nicola Brunetti-Pierri, Ryan J Taft, Stephan Züchner
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology 98 (11) (2022)
Justyna Rogulska, Katarzyna Wroblewska-Seniuk, Smigiel Robert, Jarosław Szydłowski, Tomasz Szczapa
Diagnostic Challenges in Neonatal Respiratory Distress-Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation. Diagnostics (Basel, Switzerland) 12 (5) (2022)
Anna Rozensztrauch, Smigiel Robert
Quality of Life in Children with Prader-Willi Syndrome and the Impact of the Disease on the Functioning of Families. International journal of environmental research and public health 19 (23) (2022)
Justyna Paprocka, Magdalena Nowak, Piotr Chuchra, Smigiel Robert
COQ8A -Ataxia as a Manifestation of Primary Coenzyme Q Deficiency. Metabolites 12 (10) (2022)
Anna Rozensztrauch, Smigiel Robert
Quality of Life in Children with Prader-Willi Syndrome and the Impact of the Disease on the Functioning of Families. International journal of environmental research and public health 19 (23) (2022)
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska-Smiech, Aleksandra Lewandowicz-Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior-Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Ploski Rafal, Smigiel Robert
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review. Molecular genetics & genomic medicine 9 (9) (2021)
Snir Boniel, Krystyna Szymańska, Smigiel Robert, Krzysztof Szczaluba
Kabuki Syndrome-Clinical Review with Molecular Aspects. Genes 12 (4) (2021)
Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Krzysztof Dowgierd, Smigiel Robert
Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes 12 (9) (2021)
Agnieszka Jalowska, Joanna Krzeszowiak, Agnieszka Stembalska, Krzysztof Szmyd, Miroslaw Wielgos, Gizela Jagielska, Małgorzata Raś, Agnieszka Pasławska, Agnieszka Szafrańska, Dorota Paluszyńska, Tomasz Fuchs, Karolina Pesz, Maria Małgorzata Sąsiadek, Barbara Królak-Olejnik, Smigiel Robert
Perinatalna opieka paliatywna realizowana w oddziale położniczym i neonatologicznym we współpracy z hospicjum dla dzieci - doświadczenia własne. Journal of mother and child 23 (4) (2021)
Agnieszka Stembalska, Malgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Ploski Rafal, Smigiel Robert
Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations. Genes 12 (7) (2021)
Katarzyna Okulicz-Kozaryn, Agnieszka Maryniak, Magdalena Borkowska, Smigiel Robert, Katarzyna Anna Dyląg
Diagnosis of Fetal Alcohol Spectrum Disorders (FASDs): Guidelines of Interdisciplinary Group of Polish Professionals. International journal of environmental research and public health 18 (14) (2021)
Ryszard Slezak, Smigiel Robert, Ewa Obersztyn, Agnieszka Pollak, Mateusz Dawidziuk, Wojciech Wiszniewski, Monika Bekiesińska-Figatowska, Malgorzata Rydzanicz, Ploski Rafal, Pawel Gawlinski
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene. Genes 12 (4) (2021)
Krzysztof Szczaluba, Hanna Mierzewska, Smigiel Robert, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Piotr Stawiński, Agnieszka Pollak, Malgorzata Rydzanicz, Ploski Rafal
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. Journal of applied genetics 61 (2) (2020)
Maja Krefft, Dorota Frydecka, Smigiel Robert, Błażej Misiak
Metabolic Parameters in Patients with Prader-Willi Syndrome and DiGeorge Syndrome with Respect to Psychopathological Manifestation. Neuropsychiatric disease and treatment 16 (2020)
Smigiel Robert, Anna Biernacka, Mateusz Biela, Victor Murcia-Pienkowski, Elzbieta Szmida, Piotr Gasperowicz, Joanna Kosinska, Grazyna Kostrzewa, Agnieszka Anna Koppolu, Anna Walczak, Dominik Wawrzuta, Malgorzata Rydzanicz, Malgorzata Sasiadek, Ploski Rafal
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. Journal of human genetics 63 (4) (2018)

Smigiel Robert.css-eqlu8i{font-size:small;padding-left:4px;} (Robert Smigiel, Robert Śmigiel)

Publication Activity (10 Years)

Top Topics

Top Venues

Smigiel Robert (Robert Smigiel, Robert Śmigiel)