Suchergebnisse - "Szafranski, Przemyslaw"

PubPharm (132)

41

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

42

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

43

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

44

Changes in the cannabinoids receptors in rats following treatment with antidepressants

enthalten in: Neurotoxicology | 2017

von Smaga, I. | Zaniewska, M. | Gawliński, D. | +4

45

Intercompartmental Piecewise Gene Transfer

enthalten in: Genes | 2017

von Szafranski, P.

46

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

enthalten in: American journal of human genetics | 2017

von Stankiewicz, P. | Khan, T. | Szafranski, P. | +36

47

CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region

enthalten in: Mammalian genome : official journal of the International Mammalian Genome Society | 2017

von Szafranski, P. | Karolak, J. | Lanza, D. | +3

48

Erratum to : 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

ErratumFor: Hum Genet. 2017 Apr;136(4):377-386. - PMID 28251352

49

Erratum to: 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

50

Erratum to: 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