E-LIB Suche - Ergebnisse für: Neatu, Ruxandra

1

Copy-number analysis from genome sequencing data of 11,754 ..:

Olinger, Eric ; Wilson, Ian J. ; Orr, Sarah...
Genetics in Medicine Open. 2 (2024) - p. 101834 , 2024

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

2

Molecular genetic diagnosis of kidney ciliopathies: Lessons..:

Orr, Sarah ; Olinger, Eric ; Iosifidou, Sotia...
Annals of Human Genetics. 88 (2023) 1 - p. 76-85 , 2023

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

3

Monoallelic intragenic POU3F2 variants lead to neurodevelop..:

Schönauer, Ria ; Jin, Wenjun ; Findeisen, Christin...
The American Journal of Human Genetics. 110 (2023) 6 - p. 998-1007 , 2023

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

4

Use of whole genome sequencing to determine the genetic bas..:

Geraghty, Robert M. ; Orr, Sarah ; Olinger, Eric...
Journal of Rare Diseases. 2 (2023) 1 - p. , 2023

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

5

Biallelic variants in CEP164 cause a motile ciliopathy‐like..:

Devlin, Laura A. ; Coles, Janice ; Jackson, Claire L....
Clinical Genetics. 103 (2022) 3 - p. 330-334 , 2022

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

6

The Idiopathic Pulmonary Fibrosis-Associated Single Nucleot..:

Neatu, Ruxandra ; Enekwa, Ifeanyi ; Thompson, Dean J....
Non-Coding RNA. 8 (2022) 6 - p. 83 , 2022

Link: https://doi.org/10.3390/..

7

Monoallelic intragenic POU3F2 variants lead to neurodevelop..:

Schönauer, Ria ; Jin, Wenjun ; Findeisen, Christin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257002/. , 2023

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

8

Rare disease gene association discovery from burden analysi..:

Cipriani, Valentina ; Vestito, Letizia ; Magavern, Emma F...
https://discovery.ucl.ac.uk/id/eprint/10185489/1/2023%20Cipriani%20100K%20Gene%20burden%20MedRXiv.pdf. , 2023

Link: https://discovery.ucl.ac..

9

Use of whole genome sequencing to determine the genetic bas..:

Geraghty, Robert M ; Orr, Sarah ; Olinger, Eric...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241726/. , 2023

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

10

Rare disease gene association discovery from burden analysi..:

Cipriani, Valentina ; Vestito, Letizia ; Magavern, Emma F...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10775325/. , 2023

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

11

Monoallelic IFT140 pathogenic variants are an important cau..:

Senum, Sarah R ; Li, Ying (Sabrina) M ; Benson, Katherine A...
https://research.rug.nl/en/publications/9002d405-7a25-4843-a2b1-461a1db51991. , 2022

Link: https://hdl.handle.net/1..

12

Biallelic variants in CEP164 cause a motile ciliopathy‐like..:

Devlin, Laura A ; Coles, Janice ; Jackson, Claire L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099168/. , 2022

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

13

Monoallelic IFT140 pathogenic variants are an important cau..:

Senum, Sarah R ; Li, Ying (Sabrina) M ; Benson, Katherine A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8764120/. , 2022

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

14

The Idiopathic Pulmonary Fibrosis-associated single nucleot..:

Neatu, Ruxandra ; Enekwa, Ifeanyi ; Thompson, Dean...
https://nrl.northumbria.ac.uk/id/eprint/50786/1/Neatu_et_al_Revised_MS_Final.pdf. , 2022

Link: https://nrl.northumbria...

15

Biallelic variants in CEP164 cause a motile ciliopathy-like..:

Devlin, Laura A ; Coles, Janice ; Jackson, Claire L...
https://eprints.soton.ac.uk/473740/1/Clinical_Genetics_2022_Devlin_Biallelic_variants_in_CEP164_cause_a_motile_ciliopathy_like_syndrome.pdf. , 2022

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