E-LIB Suche - Ergebnisse für: Nagirnaja, Liina

1

Toward clinical exomes in diagnostics and management of mal..:

Lillepea, Kristiina ; Juchnewitsch, Anna-Grete ; Kasak, Laura...
The American Journal of Human Genetics. 111 (2024) 5 - p. 877-895 , 2024

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

2

C19ORF84 connects piRNA and DNA methylation machineries to ..:

Zoch, Ansgar ; Konieczny, Gabriela ; Auchynnikava, Tania...
Molecular Cell. 84 (2024) 6 - p. 1021-1035.e11 , 2024

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

3

Undiagnosed RASopathies in infertile men:

Juchnewitsch, Anna-Grete ; Pomm, Kristjan ; Dutta, Avirup...
Frontiers in Endocrinology. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

4

The origins and functional effects of postzygotic mutations..:

Rockweiler, Nicole B. ; Ramu, Avinash ; Nagirnaja, Liina...
Science. 380 (2023) 6641 - p. , 2023

Link: https://doi.org/10.1126/..

5

DDX3Y is likely the key spermatogenic factor in the AZFa re..:

Dicke, Ann-Kristin ; Pilatz, Adrian ; Wyrwoll, Margot J....
Communications Biology. 6 (2023) 1 - p. , 2023

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

6

DDB1- and CUL4-associated factor 12-like protein 1 (Dcaf12l..:

Houston, Brendan J. ; Lopes, Alexandra M. ; Laan, Maris...
Developmental Biology. 490 (2022) - p. 66-72 , 2022

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

7

Actionable secondary findings following exome sequencing of..:

Kasak, Laura ; Lillepea, Kristiina ; Nagirnaja, Liina...
Human Reproduction. 37 (2022) 7 - p. 1652-1663 , 2022

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

8

Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Tes..:

Houston, Brendan J ; O'Connor, Anne E ; Wang, Degang...
Endocrinology. 163 (2022) 3 - p. , 2022

Link: https://doi.org/10.1210/..

9

A de novo paradigm for male infertility:

Oud, M. S. ; Smits, R. M. ; Smith, H. E....
Nature Communications. 13 (2022) 1 - p. , 2022

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

10

The piRNA-pathway factor FKBP6 is essential for spermatogen..:

Wyrwoll, Margot J. ; Gaasbeek, Channah M. ; Golubickaite, Ieva...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1850-1866 , 2022

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

11

Zinc finger RNA binding protein 2 (ZFR2) is not required fo..:

Cauchi, Lachlan M. ; Houston, Brendan J. ; Nagirnaja, Liina...
Developmental Biology. 489 (2022) - p. 55-61 , 2022

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

12

Diverse monogenic subforms of human spermatogenic failure:

Nagirnaja, Liina ; Lopes, Alexandra M. ; Charng, Wu-Lin...
Nature Communications. 13 (2022) 1 - p. , 2022

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

13

Large-scale analyses of the X chromosome in 2,354 infertile..:

Riera-Escamilla, Antoni ; Vockel, Matthias ; Nagirnaja, Liina...
The American Journal of Human Genetics. 109 (2022) 8 - p. 1458-1471 , 2022

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

14

The Sertoli cell expressed gene secernin‐1 (Scrn1) is dispe..:

Houston, Brendan J. ; Nagirnaja, Liina ; Merriner, D. Jo...
Developmental Dynamics. 250 (2021) 7 - p. 922-931 , 2021

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

15

A systematic review of the validated monogenic causes of hu..:

Houston, Brendan J ; Riera-Escamilla, Antoni ; Wyrwoll, Margot J...
Human Reproduction Update. 28 (2021) 1 - p. 15-29 , 2021

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