Search Results - "Bloch, Michal"

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

“…Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more…”
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Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit by Śmigiel, Robert, Biela, Mateusz, Szmyd, Krzysztof, Błoch, Michal, Szmida, Elżbieta, Skiba, Paweł, Walczak, Anna, Gasperowicz, Piotr, Kosińska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Biernacka, Anna, Zielińska, Marzena, Gołębiowski, Waldemar, Jalowska, Agnieszka, Ohia, Grażyna, Głowska, Bożena, Walas, Wojciech, Królak-Olejnik, Barbara, Krajewski, Paweł, Sykut-Cegielska, Jolanta, Sąsiadek, Maria M., Płoski, Rafał

“…Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity…”
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Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report by Klaniewska, Magdalena, Toczewski, Krystian, Rozensztrauch, Anna, Bloch, Michal, Dzielendziak, Agata, Gasperowicz, Piotr, Slezak, Ryszard, Ploski, Rafał, Rydzanicz, Małgorzata, Smigiel, Robert, Patkowski, Dariusz

“…The oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical…”
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Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy by Smigiel, Robert, Kostrzewa, Grazyna, Kosinska, Joanna, Pollak, Agnieszka, Stawinski, Piotr, Szmida, Elzbieta, Bloch, Michal, Szymanska, Krystyna, Karpinski, Pawel, Sasiadek, Maria M., Ploski, Rafal

“…Epileptic encephalopathies (EE) include a range of severe epilepsies in which intractable seizures or severe sub‐clinical epileptiform activity are accompanied…”
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The Impact of Congenital Esophageal Atresia on the Family Functioning by Rozensztrauch, Anna, Śmigiel, Robert, Błoch, Michał, Patkowski, Dariusz

“…Most of the research in the field of esophageal atresia (EA) is focused on diagnostic problems and surgery. There is scarce literature addressing the impact of…”
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Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations by Smigiel, Robert, Bezniakow, Natalia, Jakubiak, Aleksandra, Błoch, Michał, Patkowski, Dariusz, Obersztyn, Ewa, Sasiadek, Maria M.

“…We present the phenotype of three unrelated Polish patients with MFD type Guion-Almeida confirmed by EFTUD2 mutations. In all of our patients, dysmorphic…”
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Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report by Klaniewska, Magdalena, Toczewski, Krystian, Rozensztrauch, Anna, Bloch, Michal, Dzielendziak, Agata, Gasperowicz, Piotr, Slezak, Ryszard, Ploski, Rafał, Rydzanicz, Małgorzata, Smigiel, Robert, Patkowski, Dariusz

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Heterogenność kliniczna zespołu Kabuki (zespół Niikawy i Kurokiego) na podstawie opisu przypadku 15-letniej pacjentki z nawykowym zwichnięciem rzepek by Błoch, Michał, Śmigiel, Robert

“…Kabuki Syndrome (KS) is a rare genetic disease affecting about 1 in 30,000−86,000 live births. KS is characterized by the appearance of the distinctive…”
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Naturalistic emotion regulation: The measurement and social consequences of spontaneous emotion regulation during marital conflict by Bloch, Lian Michal

“…Emotion regulation is arguably a social phenomenon: it occurs most frequently in the closest social relationships, serves important social functions and,…”
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Heterogenność kliniczna zespołu Kabuki (zespół Niikawy i Kurokiego) na podstawie opisu przypadku 15-letniej pacjentki z nawykowym zwichnięciem rzepek by Błoch, Michał, Śmigiel, Robert

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Metatropic dysplasia in four-year-old boy--physiotherapy and orthopaedic care problems--case report by Kleszczyński, Jacek, Błoch, Michał, Hofbauer, Katarzyna, Dominiak, Piotr

“…Metatropic dysplasia is a rare skeletal dysplasia caused by a mutation in the VDRL4 gene. Characteristic abnormalities include tubular bones with short…”
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