Search Results - "SMIGIEL, Robert" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

SMC1A epilepsy syndrome: clinical data from a large international cohort

SMC1A epilepsy syndrome: clinical data from a large international cohort

by Gibellato, Elisabetta, Cianci, Paola, Mariani, Milena, Parma, Barbara, Huisman, Sylvia, Śmigiel, Robert, Bisgaard, Anne‐Marie, Massa, Valentina, Gervasini, Cristina, Moretti, Alex, Cattoni, Alessandro, Biondi, Andrea, Selicorni, Angelo
Published in American journal of medical genetics. Part A (01.07.2024)

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Reliability and Validity of the Polish Version of the Esophageal-Atresia-Quality-of-Life Questionnaires to Assess Condition-Specific Quality of Life in Children and Adolescents Born with Esophageal Atresia

Reliability and Validity of the Polish Version of the Esophageal-Atresia-Quality-of-Life Questionnaires to Assess Condition-Specific Quality of Life in Children and Adolescents Born with Esophageal Atresia

by Rozensztrauch, Anna, Śmigiel, Robert, Patkowski, Dariusz, Gerus, Sylwester, Kłaniewska, Magdalena, Quitmann, Julia Hannah, Dellenmark-Blom, Michaela
Published in International journal of environmental research and public health (30.06.2022)

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

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

by Bzdęga, Katarzyna, Biela, Mateusz, Deutsch, Gail H, Kitzmiller, Joseph A, Rydzanicz, Małgorzata, Płoski, Rafał, Whitsett, Jeffrey A, Śmigiel, Robert, Karolak, Justyna A
Published in Clinical genetics (01.02.2024)

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

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

by Paprocka, Justyna, Jezela-Stanek, Aleksandra, Śmigiel, Robert, Walczak, Anna, Mierzewska, Hanna, Kutkowska-Kaźmierczak, Anna, Płoski, Rafał, Emich-Widera, Ewa, Steinborn, Barbara
Published in Genes (25.04.2023)

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Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

by Paprocka, Justyna, Hutny, Michał, Hofman, Jagoda, Tokarska, Agnieszka, Kłaniewska, Magdalena, Szczałuba, Krzysztof, Stembalska, Agnieszka, Jezela-Stanek, Aleksandra, Śmigiel, Robert
Published in Frontiers in neurology (04.01.2022)

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Epigenetic Findings in Twins with Esophageal Atresia

Epigenetic Findings in Twins with Esophageal Atresia

by Błoch, Michal, Gasperowicz, Piotr, Gerus, Sylwester, Rasiewicz, Katarzyna, Lebioda, Arleta, Skiba, Pawel, Płoski, Rafal, Patkowski, Dariusz, Karpiński, Pawel, Śmigiel, Robert
Published in Genes (01.09.2023)

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A pro-inflammatory phenotype is associated with behavioural traits in children with Prader–Willi syndrome

A pro-inflammatory phenotype is associated with behavioural traits in children with Prader–Willi syndrome

by Krefft, Maja, Frydecka, Dorota, Zalsman, Gil, Krzystek-Korpacka, Małgorzata, Śmigiel, Robert, Gębura, Katarzyna, Bogunia-Kubik, Katarzyna, Misiak, Błażej
Published in European child & adolescent psychiatry (01.06.2021)

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

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

by Bodetko, Aleksandra, Chrzanowska, Joanna, Rydzanicz, Malgorzata, Borys-Iwanicka, Agnieszka, Karpinski, Pawel, Bladowska, Joanna, Ploski, Rafal, Smigiel, Robert
Published in Genes (01.02.2024)

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

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

by Krzyzewska, Izabela M, Lauffer, Peter, Mul, Adri N, van der Laan, Liselot, Yim, Andrew Y F Li, Cobben, Jan Maarten, Niklinski, Jacek, Chomczyk, Monika A, Smigiel, Robert, Mannens, Marcel M A M, Henneman, Peter
Published in International journal of molecular sciences (01.04.2023)

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Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father

Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father

by Dushar, Marya, Nowaczyk, Jędrzej, Pyrżak, Beata, Akopyan, Hayane, Śmigiel, Robert, Walczak, Anna, Rydzanicz, Małgorzata, Płoski, Rafał, Szczałuba, Krzysztof
Published in European journal of medical genetics (01.12.2021)

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Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

by Zatoński, Tomasz, Pazdro-Zastawny, Katarzyna, Morawska-Kochman, Monika, Biela, Mateusz, Kołtowska, Anna, Rydzanicz, Małgorzata, Rozensztrauch, Anna, Kosińska, Joanna, Dorobisz, Karolina, Płoski, Rafał, Śmigiel, Robert
Published in International journal of pediatric otorhinolaryngology (01.07.2020)

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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

by Stembalska, Agnieszka, Rydzanicz, Małgorzata, Klaniewska, Magdalena, Dudarewicz, Lech, Pollak, Agnieszka, Biela, Mateusz, Stawinski, Piotr, Ploski, Rafal, Smigiel, Robert
Published in Genes (27.07.2022)

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Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation

Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation

by Biela, Mateusz, Rydzanicz, Malgorzata, Jankowska, Agnieszka, Szlagatys-Sidorkiewicz, Agnieszka, Rozensztrauch, Anna, Płoski, Rafał, Smigiel, Robert
Published in Genes (18.01.2022)

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Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

by Stembalska, Agnieszka, Rydzanicz, Małgorzata, Pollak, Agnieszka, Kostrzewa, Grazyna, Stawinski, Piotr, Biela, Mateusz, Ploski, Rafal, Smigiel, Robert
Published in Genes (16.07.2021)

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Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

by Slezak, Ryszard, Smigiel, Robert, Rydzanicz, Malgorzata, Pollak, Agnieszka, Kosinska, Joanna, Stawinski, Piotr, Malgorzata Sasiadek, Maria, Ploski, Rafal
Published in Molecular genetics & genomic medicine (01.10.2020)

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Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene

Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene

by Klaniewska, Magdalena, Jedrzejowska, Maria, Rydzanicz, Malgorzata, Paprocka, Justyna, Biela, Mateusz, Wolanska, Ewelina, Pollak, Agnieszka, Debek, Emilia, Sasiadek, Maria, Ploski, Rafal, Gos, Monika, Smigiel, Robert
Published in Frontiers in genetics (28.04.2021)

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Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome

by Smigiel, Robert, Biernacka, Anna, Biela, Mateusz, Murcia-Pienkowski, Victor, Szmida, Elzbieta, Gasperowicz, Piotr, Kosinska, Joanna, Kostrzewa, Grazyna, Koppolu, Agnieszka Anna, Walczak, Anna, Wawrzuta, Dominik, Rydzanicz, Malgorzata, Sasiadek, Malgorzata, Ploski, Rafal
Published in Journal of human genetics (01.04.2018)

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AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

by Szczałuba, Krzysztof, Mierzewska, Hanna, Śmigiel, Robert, Kosińska, Joanna, Koppolu, Agnieszka, Biernacka, Anna, Stawiński, Piotr, Pollak, Agnieszka, Rydzanicz, Małgorzata, Płoski, Rafał
Published in Journal of applied genetics (01.05.2020)

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Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene

by Slezak, Ryszard, Smigiel, Robert, Obersztyn, Ewa, Pollak, Agnieszka, Dawidziuk, Mateusz, Wiszniewski, Wojciech, Bekiesinska-Figatowska, Monika, Rydzanicz, Malgorzata, Ploski, Rafal, Gawlinski, Pawel
Published in Genes (19.04.2021)

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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

by Stembalska, Agnieszka, Rydzanicz, Małgorzata, Walas, Wojciech, Gasperowicz, Piotr, Pollak, Agnieszka, Pienkowski, Victor Murcia, Biela, Mateusz, Klaniewska, Magdalena, Gamrot, Zuzanna, Gronska, Ewa, Ploski, Rafal, Smigiel, Robert
Published in Genes (21.04.2022)

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