E-LIB Suche - Ergebnisse für: Mannik, Katrin

1

P536: 2q11.2 recurrent CNVs including TMEM127: A collaborat..:

Pizzo, Lucilla ; Lewis, Zoe ; Walsh, Lauren...
Genetics in Medicine Open. 1 (2023) 1 - p. 100583 , 2023

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

2

Author Correction: Possible association of 16p11.2 copy num..:

Giannuzzi, Giuliana ; Chatron, Nicolas ; Mannik, Katrin...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

3

Possible association of 16p11.2 copy number variation with ..:

Giannuzzi, Giuliana ; Chatron, Nicolas ; Mannik, Katrin...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

4

Conceptualising Micro-credentials in the Higher Education R..:

, In: Polyphonic Construction of Smart Learning Ecosystems; Smart Innovation, Systems and Technologies,

Carțiș, Alexandru ; Leoste, Janika ; Iucu, Romiță... - p. 191-203 , 2022

Link: https://doi.org/10.1007/..

5

The relevance of deep genomic analyses in families with var..:

Pizzo, Lucilla ; Jensen, Matthew ; Tyryshkina, Anastasia...
Molecular Genetics and Metabolism. 132 (2021) - p. S69 , 2021

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

6

Rare variants in the genetic background modulate cognitive ..:

Pizzo, Lucilla ; Jensen, Matthew ; Polyak, Andrew...
Genetics in Medicine. 21 (2019) 4 - p. 816-825 , 2019

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

7

The Number of Genomic Copies at the 16p11.2 Locus Modulates..:

Hippolyte, Loyse ; Maillard, Anne M. ; Rodriguez-Herreros, Borja...
Biological Psychiatry. 80 (2016) 2 - p. 129-139 , 2016

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

8

Monozygotic Twins with 17q21.31 Microdeletion Syndrome:

Vlckova, Marketa ; Hancarova, Miroslava ; Drabova, Jana...
Twin Research and Human Genetics. 17 (2014) 5 - p. 405-410 , 2014

Link: https://doi.org/10.1017/..

9

Increased Dosage of RAB39B Affects Neuronal Development and..:

Vanmarsenille, Lieselot ; Giannandrea, Maila ; Fieremans, Nathalie...
Human Mutation. 35 (2014) 3 - p. 377-383 , 2014

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

10

16p11.2 600 kb Duplications confer risk for typical and aty..:

Reinthaler, Eva M. ; Lal, Dennis ; Lebon, Sebastien...
Human Molecular Genetics. 23 (2014) 22 - p. 6069-6080 , 2014

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

11

A patient with de novo 0.45 Mb deletion of 2p16.1: The role..:

Hancarova, Miroslava ; Simandlova, Martina ; Drabova, Jana...
American Journal of Medical Genetics Part A. 161 (2013) 4 - p. 865-870 , 2013

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

12

Rare Genomic Structural Variants in Complex Disease: Lesson..:

Walters, Robin G. ; Coin, Lachlan J. M. ; Ruokonen, Aimo...
PLoS ONE. 8 (2013) 3 - p. e58048 , 2013

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

13

A parallel SNP array study of genomic aberrations associate..:

Männik, Katrin ; Parkel, Sven ; Palta, Priit...
European Journal of Medical Genetics. 54 (2011) 2 - p. 136-143 , 2011

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

14

Mirror extreme BMI phenotypes associated with gene dosage a..:

Jacquemont, Sébastien ; Reymond, Alexandre ; Zufferey, Flore...
Nature. 478 (2011) 7367 - p. 97-102 , 2011

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

15

Fourteen new cases contribute to the characterization of th..:

Van der Aa, Nathalie ; Rooms, Liesbeth ; Vandeweyer, Geert...
European Journal of Medical Genetics. 52 (2009) 2-3 - p. 94-100 , 2009

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