Suchergebnisse - "Szafranski, Przemyslaw"

PubPharm (29)

1

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

2

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

3

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

4

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

enthalten in: Clinical epigenetics | 2019

von Schulze, K. | Szafranski, P. | Lesmana, H. | +11

5

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

enthalten in: Molecular genetics & genomic medicine | 2019

von Salehi Karlslätt, K. | Pettersson, M. | Jäntti, N. | +9

6

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

enthalten in: American journal of human genetics | 2019

von Karolak, J. | Vincent, M. | Deutsch, G. | +69

7

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

enthalten in: Human mutation | 2018

von Szafranski, P. | Kośmider, E. | Liu, Q. | +27

8

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

enthalten in: The Journal of pediatrics | 2018

von Towe, C. | White, F. | Grady, R. | +9

9

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

enthalten in: Human genetics | 2017

von Zhang, J. | Gambin, T. | Yuan, B. | +35

ErratumIn: Hum Genet. 2017 Jun 28;:. - PMID 28660352

10

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

enthalten in: American journal of medical genetics. Part A | 2016

von Szafranski, P. | Coban-Akdemir, Z. | Rupps, R. | +8