Arama Sonuçları - Gambin, Tomasz

A new classification method using array Comparative Genome Hybridization data, based on the concept of Limited Jumping Emerging Patterns Yazar: Gambin, Tomasz, Walczak, Krzysztof

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SeQuiLa-cov: A fast and scalable library for depth of coverage calculations Yazar: Wiewiórka, Marek, Szmurło, Agnieszka, Kuśmirek, Wiktor, Gambin, Tomasz

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Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq Yazar: Karolak, Justyna A., Gambin, Tomasz, Szafranski, Przemyslaw, Stankiewicz, Paweł

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Diversity and structure of PIF/Harbinger-like elements in the genome of Medicago truncatula Yazar: Grzebelus, Dariusz, Lasota, Slawomir, Gambin, Tomasz, Kucherov, Gregory, Gambin, Anna

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Benchmarking distributed data warehouse solutions for storing genomic variant information Yazar: Wiewiórka, Marek S., Wysakowicz, Dawid P., Okoniewski, Michał J., Gambin, Tomasz

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Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance Yazar: Kuśmirek, Wiktor, Szmurło, Agnieszka, Wiewiórka, Marek, Nowak, Robert, Gambin, Tomasz

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Lung-specific distant enhancer cis-regulates expression of FOXF1 and lncRNA FENDRR Yazar: Szafranski, Przemyslaw, Gambin, Tomasz, Karolak, Justyna A., Popek, Edwina, Stankiewicz, Paweł

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TIRfinder: A Web Tool for Mining Class II Transposons Carrying Terminal Inverted Repeats Yazar: Gambin, Tomasz, Startek, Michał, Walczak, Krzysztof, Paszek, Jarosław, Grzebelus, Dariusz, Gambin, Anna

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Transcriptome and Immunohistochemical Analyses in TBX4- and FGF10-Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development Yazar: Karolak, Justyna A., Deutsch, Gail, Gambin, Tomasz, Szafranski, Przemyslaw, Popek, Edwina, Stankiewicz, Paweł

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A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report... Yazar: Karolak, Justyna A., Gambin, Tomasz, Honey, Engela M., Slavik, Tomas, Popek, Edwina, Stankiewicz, Paweł

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Multiple samples aCGH analysis for rare CNVs detection Yazar: Sykulski, Maciej, Gambin, Tomasz, Bartnik, Magdalena, Derwińska, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Stankiewicz, Paweł, Gambin, Anna

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Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation Yazar: Bozdogan, Sevcan Tug, Yuregir, Ozge Ozalp, Buyukkurt, Nurhilal, Aslan, Huseyin, Ozdemir, Zeynep Canan, Gambin, Tomasz

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Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus Yazar: Karolak, Justyna A., Gambin, Tomasz, Rydzanicz, Malgorzata, Polakowski, Piotr, Ploski, Rafal, Szaflik, Jacek P., Gajecka, Marzena

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Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency Yazar: Karolak, Justyna A., Gambin, Tomasz, Szafranski, Przemyslaw, Maywald, Rebecca L., Popek, Edwina, Heaney, Jason D., Stankiewicz, Paweł

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Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis Yazar: Dittwald, Piotr, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Carvalho, Claudia M.B., Lupski, James R., Stankiewicz, Paweł, Gambin, Anna

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Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination Yazar: Startek, Michał, Szafranski, Przemyslaw, Gambin, Tomasz, Campbell, Ian M., Hixson, Patricia, Shaw, Chad A., Stankiewicz, Paweł, Gambin, Anna

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Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing Yazar: Karolak, Justyna A, Gambin, Tomasz, Pitarque, Jose A, Molinari, Andrea, Jhangiani, Shalini, Stankiewicz, Pawel, Lupski, James R, Gajecka, Marzena

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Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a non-coding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant Yazar: Bölükbaşı, Esra Yıldız, Karolak, Justyna A., Szafranski, Przemyslaw, Gambin, Tomasz, Murik, Omer, Zeevi, David A., Altarescu, Gheona, Stankiewicz, Paweł

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Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders Yazar: Vincent, Marie, Karolak, Justyna A., Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł

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Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy Yazar: Collison, Frederick T., Xie, Yajing (Angela), Gambin, Tomasz, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Fishman, Gerald A., Allikmets, Rando

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