Search details
1.
A Case Study from the Past: "The RGC-5 vs. the 661W Cell Line: Similarities, Differences and Contradictions-Are They Really the Same?"
Int J Mol Sci
; 24(18)2023 Sep 07.
Article
in English
| MEDLINE | ID: mdl-37762103
2.
Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qterâq21.11::p23.3âqter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Am J Med Genet A
; 182(11): 2680-2684, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32803851
3.
The impact of an audience response system on a summative assessment, a controlled field study.
BMC Med Educ
; 20(1): 218, 2020 Jul 13.
Article
in English
| MEDLINE | ID: mdl-32660496
4.
First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical Study.
Fetal Diagn Ther
; 47(11): 841-852, 2020.
Article
in English
| MEDLINE | ID: mdl-32877902
5.
Discordance between ultrasound and cell free DNA screening for monosomy X.
Arch Gynecol Obstet
; 294(2): 219-24, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27022934
6.
Twelve tips for successfully implementing logbooks in clinical training.
Med Teach
; 38(6): 564-9, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-26841068
7.
UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays.
Bioinformatics
; 29(12): 1562-4, 2013 Jun 15.
Article
in English
| MEDLINE | ID: mdl-23589652
8.
Amniotic bands as a cause of congenital anterior staphyloma.
Graefes Arch Clin Exp Ophthalmol
; 251(3): 959-65, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23150045
9.
Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation.
Stem Cell Res
; 67: 103028, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36652844
10.
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
Eur J Hum Genet
; 31(10): 1139-1146, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37507557
11.
Generation of two gene edited iPSC-lines carrying a DOX-inducible NGN2 expression cassette with and without GFP in the AAVS1 locus.
Stem Cell Res
; 52: 102240, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33610017
12.
Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).
Am J Med Genet A
; 152A(6): 1484-7, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20503324
13.
Generation and characterization of human induced pluripotent stem cells lines from four patients diagnosed with schizophrenia and one healthy control.
Stem Cell Res
; 48: 101961, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32911325
14.
Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene.
Stem Cell Res
; 35: 101403, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30769329
15.
Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation.
Stem Cell Res
; 37: 101445, 2019 05.
Article
in English
| MEDLINE | ID: mdl-31075689
16.
Generation of iPSCs by Nonintegrative RNA-Based Reprogramming Techniques: Benefits of Self-Replicating RNA versus Synthetic mRNA.
Stem Cells Int
; 2019: 7641767, 2019.
Article
in English
| MEDLINE | ID: mdl-31320906
17.
Reprogramming of Urine-Derived Renal Epithelial Cells into iPSCs Using srRNA and Consecutive Differentiation into Beating Cardiomyocytes.
Mol Ther Nucleic Acids
; 17: 907-921, 2019 Sep 06.
Article
in English
| MEDLINE | ID: mdl-31476669
18.
Alternative splicing of the tumor suppressor ASPP2 results in a stress-inducible, oncogenic isoform prevalent in acute leukemia.
EBioMedicine
; 42: 340-351, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30952616
19.
Generation of a set of isogenic, gene-edited iPSC lines homozygous for all main APOE variants and an APOE knock-out line.
Stem Cell Res
; 34: 101349, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30660866
20.
Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation.
Stem Cell Res
; 33: 6-9, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30292882