E-LIB Suche - Ergebnisse für: Lundin, Johanna

1

Tissue specific trisomy 15 mosaicism associated with urogen..:

Nordenskjöld, Agneta ; Lagerstedt-Robinson, Kristina ; Anderlid, Britt-Marie.
European Journal of Medical Genetics. 66 (2023) 10 - p. 104824 , 2023

Link: https://doi.org/10.1016/..

2

Copy number variants suggest different molecular pathways f..:

Nordenskjöld, Agneta ; Arkani, Samara ; Pettersson, Maria...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 378-390 , 2022

Link: https://doi.org/10.1002/..

3

Rare copy number variants contribute pathogenic alleles in ..:

Salehi Karlslätt, Karin ; Pettersson, Maria ; Jäntti, Nina...
Molecular Genetics & Genomic Medicine. 7 (2019) 3 - p. , 2019

Link: https://doi.org/10.1002/..

4

Further support linking the 22q11.2 microduplication to an ..:

Lundin, Johanna ; Markljung, Ellen ; Baranowska Körberg, Izabella...
Molecular Genetics & Genomic Medicine. 7 (2019) 6 - p. , 2019

Link: https://doi.org/10.1002/..

5

From cytogenetics to cytogenomics: whole-genome sequencing ..:

Lindstrand, Anna ; Eisfeldt, Jesper ; Pettersson, Maria...
Genome Medicine. 11 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

6

Two novel colorectal cancer risk loci in the region on chro..:

Thutkawkorapin, Jessada ; Mahdessian, Hovsep ; Barber, Tom...
Oncotarget. 9 (2018) 13 - p. 11170-11179 , 2018

Link: https://doi.org/10.18632..

7

Flanking complex copy number variants in the same family fo..:

Pettersson, Maria ; Eisfeldt, Jesper ; Syk Lundberg, Elisabeth..
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 812 (2018) - p. 1-4 , 2018

Link: https://doi.org/10.1016/..

8

Evaluation of the ISL1 gene in the pathogenesis of bladder ..:

Arkani, Samara ; Cao, Jia ; Lundin, Johanna...
Human Genome Variation. 5 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..

9

Replicative and non-replicative mechanisms in the formation..:

Nazaryan-Petersen, Lusine ; Eisfeldt, Jesper ; Pettersson, Maria...
PLOS Genetics. 14 (2018) 11 - p. e1007780 , 2018

Link: https://doi.org/10.1371/..

10

PHIP- a novel candidate breast cancer susceptibility locus ..:

Jiao, Xiang ; Aravidis, Christos ; Marikkannu, Rajeshwari...
Oncotarget. 8 (2017) 61 - p. 102769-102782 , 2017

Link: https://doi.org/10.18632..

11

Haploinsufficiency of ZNF462 is associated with craniofacia..:

Weiss, Karin ; Wigby, Kristen ; Fannemel, Madeleine...
European Journal of Human Genetics. 25 (2017) 8 - p. 946-951 , 2017

Link: https://doi.org/10.1038/..

12

NEIL1 is a candidate gene associated with common variable i..:

Romano, Rosa ; Zaravinos, Apostolos ; Liadaki, Kyriaki...
Clinical Immunology. 176 (2017) - p. 71-76 , 2017

Link: https://doi.org/10.1016/..

13

WNT3 involvement in human bladder exstrophy and cloaca deve..:

Baranowska Körberg, Izabella ; Hofmeister, Wolfgang ; Markljung, Ellen...
Human Molecular Genetics. 24 (2015) 18 - p. 5069-5078 , 2015

Link: https://doi.org/10.1093/..

14

Small mosaic deletion encompassing the snoRNAs and SNURF‐SN..:

Anderlid, Britt‐Marie ; Lundin, Johanna ; Malmgren, Helena..
American Journal of Medical Genetics Part A. 164 (2013) 2 - p. 425-431 , 2013

Link: https://doi.org/10.1002/..

15

Inherited mosaicism for the supernumerary marker chromosome..:

Kvarnung, Malin ; Lindstrand, Anna ; Malmgren, Helena...
American Journal of Medical Genetics Part A. 158A (2012) 5 - p. 1111-1117 , 2012

Link: https://doi.org/10.1002/..