E-LIB Suche - Ergebnisse für: Anderlid, B-M

1

An in vitro model of lissencephaly: expanding the role of D..:

Shahsavani, M ; Pronk, R J ; Falk, R...
Molecular Psychiatry. 23 (2017) 7 - p. 1674-1684 , 2017

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

2

Medical history of discordant twins and environmental etiol..:

Willfors, C ; Carlsson, T ; Anderlid, B-M...
Translational Psychiatry. 7 (2017) 1 - p. e1014-e1014 , 2017

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

3

MLL2 mutation detection in 86 patients with Kabuki syndrome..:

Makrythanasis, P ; van Bon, BW ; Steehouwer, M...
Clinical Genetics. 84 (2013) 6 - p. 539-545 , 2013

Link: https://doi.org/10.1111/..

4

High-resolution molecular karyotyping in patients with deve..:

Wincent, J ; Anderlid, B-M ; Lagerberg, M..
Clinical Genetics. 79 (2011) 2 - p. 147-157 , 2011

Link: https://doi.org/10.1111/..

5

Corpus callosum abnormalities, intellectual disability, spe..:

Halgren, C ; Kjaergaard, S ; Bak, M...
Clinical Genetics. 82 (2011) 3 - p. 248-255 , 2011

Link: https://doi.org/10.1111/..

6

Detailed molecular and clinical characterization of three p..:

Lindstrand, A ; Malmgren, H ; Sahlén, S...
Clinical Genetics. 77 (2010) 2 - p. 145-154 , 2010

Link: https://doi.org/10.1111/..

7

Concurrent microdeletion and duplication of 22q11.2:

Blennow, E ; Lagerstedt, K ; Malmgren, H...
Clinical Genetics. 74 (2008) 1 - p. 61-67 , 2008

Link: https://doi.org/10.1111/..

8

CHD7 mutation spectrum in 28 Swedish patients diagnosed wit..:

Wincent, J ; Holmberg, E ; Strömland, K...
Clinical Genetics. 74 (2008) 1 - p. 31-38 , 2008

Link: https://doi.org/10.1111/..

9

Large-scale targeted sequencing identifies risk genes for n..:

Wang, T ; Hoekzema, K ; Vecchio, D...
issn:2041-1723. , 2020

Link: http://hdl.handle.net/11..

10

Large-scale targeted sequencing identifies risk genes for n..:

Wang, T ; Hoekzema, K ; Vecchio, D...
issn:2041-1723. , 2020

Link: http://hdl.handle.net/11..

11

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodev..:

O'Donnell-Luria, AH ; Pais, LS ; Faundes, V...
https://openaccess.sgul.ac.uk/id/eprint/113838/1/O%27Donnell-LuriaetalAAM2019.pdf. , 2019

Link: https://openaccess.sgul...

12

Toward clinical and molecular understanding of pathogenic v..:

van der Schoot, V ; de Munnik, S ; Venselaar, H...
van der Schoot , V , de Munnik , S , Venselaar , H , Elting , M , Verheijen - Mancini , G , van Ravenswaaij-Arts , CMA , Anderlid , BM , Brunner , HG & Stevens , SJC 2018 , ' Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene ' , Molecular genetics & genomic medicine , vol. 6 , no. 3 , pp. 393-400 . https://doi.org/10.1002/mgg3.387. , 2018

Link: https://pure.eur.nl/en/p..

13

Reduced immunoglobulin gene diversity in patients with Corn..:

Bjorkman, A ; Du, LK ; van der Burg, Mirjam...
Bjorkman , A , Du , LK , van der Burg , M , Cormier-Daire , V , Borck , G , Pie , J , Anderlid , BM , Hammarstrom , L , Strom , L , de Villartay , JP , Kipling , D , Walters , DD & Pan-Hammarstrom , Q 2018 , ' Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome ' , Journal of Allergy and Clinical Immunology , vol. 141 , no. 1 , pp. 408-+ . https://doi.org/10.1016/j.jaci.2017.06.043. , 2018

Link: https://pure.eur.nl/en/p..

14

Medical history of discordant twins and environmental etiol..:

Willfors, C ; Carlsson, T ; Anderlid, B-M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5299390/. , 2017

Link: http://www.ncbi.nlm.nih...

15

Corpus callosum abnormalities, intellectual disability, spe..:

Halgren, C ; Kjaergaard, S ; Bak, M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464360. , 2012

Link: http://www.ncbi.nlm.nih...