Przemysław Szafrański: search on Z-Library

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51

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sa

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.53 MB

english, 2017

52

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

Towe, Christopher T., White, Frances V., Grady, R. Mark, Sweet, Stuart C., Eghtesady, Pirooz, Wegner, Daniel J., Sen, Partha, Szafranski, Przemyslaw, Stankiewicz, Pawel, Hamvas, Aaron, Cole, F. Sessio

Journal:

The Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 776 KB

english, 2017

53

Structure and chemistry of liquid Al–Cu alloys: molecular dynamics study versus thermodynamics-based modelling

Trybula, Marcela E., Szafrański, Przemysław W., Korzhavyi, Pavel A.

Journal:

Journal of Materials Science

Year:

2018

Language:

english

File:

PDF, 1.28 MB

english, 2018

54

A New Mutation in the KvLQT1 Gene Resulting in a Large Spectrum of Phenotypic Variability

Flippin, Mindee, Szafranski, Przemyslaw, Canter, Charles, Bromberg, Burt, Lindsay, Bruce, Zimmerman, Frank

Journal:

Pediatric Research

Year:

1999

File:

PDF, 70 KB

1999

55

Mechanisms for Complex Chromosomal Insertions

Gu, Shen, Szafranski, Przemyslaw, Akdemir, Zeynep Coban, Yuan, Bo, Cooper, Mitchell L., Magriñá, Maria A., Bacino, Carlos A., Lalani, Seema R., Breman, Amy M., Smith, Janice L., Patel, Ankita, Song, R

Journal:

Year:

2016

Language:

english

File:

PDF, 2.31 MB

english, 2016

56

Intercompartmental Piecewise Gene Transfer

Szafranski, Przemyslaw

Journal:

Year:

2017

Language:

english

File:

PDF, 814 KB

english, 2017

57

LINE- and Alu -containing genomic instability hotspotat 16q24.1 associated with recurrent and nonrecurrent CNV deletionscausative for ACDMPV

Szafranski, Przemyslaw, Kośmider, Ewelina, Liu, Qian, Karolak, Justyna A., Currie, Lauren, Parkash, Sandhya, Kahler, Stephen G., Roeder, Elizabeth, Littlejohn, Rebecca O., DeNapoli, Thomas S., Shardon

Journal:

Year:

2018

Language:

english

File:

PDF, 1.16 MB

english, 2018

58

Fluorescent triazolyl spirooxazolidines: Synthesis and NMR stereochemical studies

Kasza, Patryk, Trybula, Marcela E., Baradziej, Katarzyna, Kepczynski, Mariusz, Szafrański, Przemysław W., Cegła, Marek T.

Journal:

Journal of Molecular Structure

Year:

2019

Language:

english

File:

PDF, 3.43 MB

english, 2019

59

Superparamagnetic Iron Oxide Nanoparticles—Current and Prospective Medical Applications

Dulińska-Litewka, Joanna, Łazarczyk, Agnieszka, Hałubiec, Przemysław, Szafrański, Oskar, Karnas, Karolina, Karewicz, Anna

Journal:

Year:

2019

Language:

english

File:

PDF, 2.06 MB

english, 2019

60

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

Vincent, Marie, Karolak, Justyna A, Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2019

File:

PDF, 1.20 MB

2019

61

The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia

Pradhan, Arun, Dunn, Andrew, Ustiyan, Vladimir, Bolte, Craig, Wang, Guolun, Whitsett, Jeffrey A, Zhang, Yufang, Porollo, Alexey, Hu, Yueh-Chiang, Xiao, Rui, Szafranski, Przemyslaw, Shi, Donglu, Stanki

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2019

Language:

english

File:

PDF, 8.98 MB

english, 2019

62

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

Karolak, Justyna A., Szafranski, Przemyslaw, Kilner, David, Patel, Chirag, Scurry, Bonnie, Kinning, Esther, Chandler, Kate, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Lupski, James R., Popek, Ed

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 3.25 MB

english, 2019

63

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

Karolak, Justyna A., Szafranski, Przemyslaw, Kilner, David, Patel, Chirag, Scurry, Bonnie, Kinning, Esther, Chandler, Kate, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Lupski, James R., Popek, Ed

Journal:

Clinical Genetics

Year:

2019

File:

PDF, 3.25 MB

2019

64

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

Szafranski, Przemyslaw, Liu, Qian, Karolak, Justyna A., Song, Xiaofei, de Leeuw, Nicole, Faas, Brigitte, Gerychova, Romana, Janku, Petr, Jezova, Marta, Valaskova, Iveta, Gibbs, Kathleen A., Surrey, Le

Journal:

Year:

2019

Language:

english

File:

PDF, 1.76 MB

english, 2019

65

Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development

Steiner, Laurie A, Getman, Michael, Schiralli Lester, Gillian M, Iqbal, M Anwar, Katzman, Philip, Szafranski, Przemyslaw, Stankiewicz, Pawel, Bhattacharya, Soumyaroop, Mariani, Thomas, Pryhuber, Glori

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 2.05 MB

2020