Suchergebnisse - "Szafranski, Przemyslaw"

PubPharm (132)

11

High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

enthalten in: Molecular genetics & genomic medicine | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Szafranski, P. | +6

12

Ligand assisted CuAAC labelling and RP-HPLC analysis of zidovudine and Retrovir using propargyl-Fmoc probe

enthalten in: European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences | 2022

von Kasza, P. | Pociecha, K. | Wójcik-Pszczoła, K. | +5

13

Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant

enthalten in: European journal of human genetics : EJHG | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Szafranski, P. | +9

14

Transcriptome and Immunohistochemical Analyses in TBX4- and FGF10-Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development

enthalten in: American journal of respiratory cell and molecular biology | 2022

von Karolak, J. | Deutsch, G. | Gambin, T. | +3

15

Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?

enthalten in: European journal of medical genetics | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Gambin, T. | +3

16

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant

enthalten in: American journal of medical genetics. Part A | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Szafranski, P. | +5

17

Multigram-scale enzymatic kinetic resolution of trans-2-azidocyclohexyl acetate and chiral reversed-phase HPLC analysis of trans-2-azidocyclohexanol

enthalten in: Chirality | 2022

von Hebda, P. | Wiśniowska, L. | Szafrański, P. | +1

18

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 variant

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Szafranski, P. | +5

19

High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

enthalten in: Molecular Genetics & Genomic Medicine | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Szafranski, P. | +6

20

Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency

enthalten in: Respiratory research | 2021

von Karolak, J. | Gambin, T. | Szafranski, P. | +4