E-LIB Suche - Ergebnisse für: Gillessen-Kaesbach, Gabriele

1

Biallelic variants in ADAMTS15 cause a novel form of distal..:

Boschann, Felix ; Cogulu, Muhsin Ö ; Pehlivan, Davut...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9982667/. , 2022

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

2

Protocol of the Luebeck longitudinal investigation of SARS-..:

Balck, Alexander ; Föh, Bandik ; Borsche, Max...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9261226/. , 2022

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

3

Maternal transmission of a mild Coffin–Siris syndrome pheno..:

Hanker, Britta ; Gillessen-Kaesbach, Gabriele ; Hüning, Irina..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8738766/. , 2021

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

4

Maternal transmission of a mild Coffin–Siris syndrome pheno..:

Hanker, Britta ; Gillessen-Kaesbach, Gabriele ; Hüning, Irina..
https://repository.publisso.de/resource/frl:6442784. , 2021

Link: https://repository.publi..

5

The adult phenotype of Schaaf-Yang syndrome:

Marbach, Felix ; Elgizouli, Magdeldin ; Rech, Megan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574436/. , 2020

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

6

The adult phenotype of Schaaf-Yang syndrome:

Marbach, Felix ; Elgizouli, Magdeldin ; Rech, Megan...
https://repository.publisso.de/resource/frl:6463013. , 2020

Link: https://repository.publi..

7

The adult phenotype of Schaaf-Yang syndrome:

Marbach, Felix ; Elgizouli, Magdeldin ; Rech, Megan...
Marbach , F , Elgizouli , M , Rech , M , Beygo , J , Erger , F , Velmans , C , Stumpel , C T R M , Stegmann , A P A , Beck-Wodl , S , Gillessen-Kaesbach , G , Horsthemke , B , Schaaf , C P & Kuechler , A 2020 , ' The adult phenotype of Schaaf-Yang syndrome ' , Orphanet Journal of Rare Diseases , vol. 15 , no. 1 , 294 . https://doi.org/10.1186/s13023-020-01557-8. , 2020

Link: https://cris.maastrichtu..

8

Recurrent heterozygous PAX6 missense variants cause severe ..:

Williamson, Kathleen A ; Hall, H Nikki ; Owen, Liusaidh J...
http://eprints.gla.ac.uk/203990/1/203990.pdf. , 2020

Link: http://eprints.gla.ac.uk..

9

Recurrent heterozygous PAX6 missense variants cause severe ..:

Williamson, Kathleen K.A ; Hall, Hildegard Nikki ; Owen, Liusaidh L.J...
uri/info:doi/10.1038/s41436-019-0685-9. , 2019

Link: http://hdl.handle.net/20..

10

Recurrent heterozygous PAX6 missense variants cause severe ..:

Williamson, Kathleen A ; Hall, H. Nikki ; Owen, Liusaidh J...
https://eprints.soton.ac.uk/436322/1/s41436_019_0685_9.pdf. , 2019

Link: https://eprints.soton.ac..

11

Identification of the recently described plasminogen gene m..:

Recke, Andreas ; Massalme, Elisabeth G ; Jappe, Uta...
https://resolver.sub.uni-goettingen.de/purl?gro-2/57678. , 2019

Link: https://resolver.sub.uni..

12

Novel mosaic variants in two patients with Cornelia de Lang..:

Pozojevic, Jelena ; Parenti, Ilaria ; Graul-Neumann, Luitgard...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2017.11.004. , 2018

Link: https://hal-univ-rennes1..

13

The origin of imprinting defects in Temple syndrome and com..:

Beygo, Jasmin ; Mertel, Claudia ; Kaya, Sabine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224218/. , 2018

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

14

Novel mosaic variants in two patients with Cornelia de Lang..:

Pozojevic, Jelena ; Parenti, Ilaria ; Graul-Neumann, Luitgard...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2017.11.004. , 2018

Link: https://univ-rennes.hal...

15

A recurrent de novo mutation in ACTG1 causes isolated ocula..:

Rainger, Joe ; Williamson, Kathleen A ; Soares, Dinesh C...
https://eprints.lincoln.ac.uk/id/eprint/29458/1/Rainger942.pdf. , 2017

Link: https://eprints.lincoln...