Suchergebnisse - "Stankiewicz, Paweł"

PubPharm (430)

1

Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant : A Case Report

enthalten in: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society | 2023

von Szafranski, P. | Patrizi, S. | Gambin, T. | +6

2

Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia

enthalten in: Clinical epigenetics | 2023

von Szafranski, P. | Garimella, R. | Mani, H. | +5

3

A Small De Novo CNV Deletion of the Paternal Copy of FOXF1, Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region

enthalten in: Non-coding RNA | 2023

von Szafranski, P. | Stankiewicz, P.

4

Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia

enthalten in: Pediatric pulmonology | 2023

von Galambos, C. | Logan, J. | Stankiewicz, P. | +6

5

Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia

enthalten in: American journal of respiratory and critical care medicine | 2023

von Guo, M. | Wikenheiser-Brokamp, K. | Kitzmiller, J. | +17

CommentIn: Am J Respir Crit Care Med. 2023 Sep 15;208(6):652-654. - PMID 37555730

6

PhaseDancer : a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution

enthalten in: Genome biology | 2023

von Poszewiecka, B. | Gogolewski, K. | Karolak, J. | +2

7

PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution

enthalten in: Genome biology | 2023

von Poszewiecka, B. | Gogolewski, K. | Karolak, J. | +2

8

SNV/indel hypermutator phenotype in biallelic RAD51C variant : Fanconi anemia

enthalten in: Human genetics | 2023

von Zemet, R. | Du, H. | Gambin, T. | +3

UpdateOf: Res Sq. 2023 Mar 02;:. - PMID 36909564

9

Molecular Function and Contribution of TBX4 in Development and Disease

enthalten in: American journal of respiratory and critical care medicine | 2023

von Karolak, J. | Welch, C. | Mosimann, C. | +18

10

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia

enthalten in: Research square | 2023

von Zemet, R. | Du, H. | Gambin, T. | +3

UpdateIn: Hum Genet. 2023 Apr 9;:. - PMID 37031326

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