E-LIB Suche - Ergebnisse für: Mann, Nina

1

A superclinic model for tackling skin cancer referrals:

Mann, Nina ; Cunliffe, Amy ; Levell, Nick J.
Clinical and Experimental Dermatology. 49 (2024) 8 - p. 896-896 , 2024

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

2

Expanding the spectrum of novel candidate genes using trio ..:

Schneider, Ronen ; Shril, Shirlee ; Buerger, Florian...
Genes & Diseases. , 2024

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

3

P05 Pre-visit online paediatric atopic dermatitis questionn..:

Gan, Alex ; Vaughan, Emily ; Heysa, Nataliya...
British Journal of Dermatology. 190 (2024) Supplement_1 - p. i6-i6 , 2024

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

4

BG09 RASA1 exon deletion in a neonate with vascular malform..:

Mann, Nina ; Solman, Lea ; Searle, Claire..
British Journal of Dermatology. 188 (2023) Supplement_4 - p. , 2023

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

5

Recessive CHRM5 variant as a potential cause of neurogenic ..:

Schneider, Sophia ; Schierbaum, Luca ; Burger, Wessel A. C....
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2083-2091 , 2023

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

6

Reverse phenotyping facilitates disease allele calling in e..:

Seltzsam, Steve ; Wang, Chunyan ; Zheng, Bixia...
Genetics in Medicine. 24 (2022) 2 - p. 307-318 , 2022

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

7

Whole exome sequencing identifies potential candidate genes..:

Wang, Chunyan ; Seltzsam, Steve ; Zheng, Bixia...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1355-1367 , 2022

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

8

Copy Number Variation Analysis Facilitates Identification o..:

Wu, Chen-Han Wilfred ; Lim, Tze Y. ; Wang, Chunyan...
European Urology Open Science. 44 (2022) - p. 106-112 , 2022

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

9

The effect of gender-affirming hormone treatment on serum c..:

Millington, Kate ; Barrera, Ellis ; Daga, Ankana...
Pediatric Nephrology. 37 (2022) 9 - p. 2141-2150 , 2022

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

10

Exome survey of individuals affected by VATER/VACTERL with ..:

Kolvenbach, Caroline M. ; van der Ven, Amelie T. ; Kause, Franziska...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3784-3792 , 2021

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

11

A hemodialysis patient with difficulty ambulating: Answers:

Mann, Nina ; Fayemi, Annemarie ; Myles, Melissa...
Pediatric Nephrology. , 2021

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

12

A hemodialysis patient with difficulty ambulating: Question:

Mann, Nina ; Fayemi, Annemarie ; Myles, Melissa...
Pediatric Nephrology. 36 (2021) 7 - p. 2069-2070 , 2021

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

13

Whole-exome sequencing identifiesFOXL2,FOXA2andFOXA3as cand..:

Zheng, Bixia ; Seltzsam, Steve ; Wang, Chunyan...
Nephrology Dialysis Transplantation. 37 (2021) 10 - p. 1833-1843 , 2021

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

14

A truncating NRIP1 variant in an Arabic family with congeni..:

Zheng, Bixia ; Wang, Chunyan ; Seltzsam, Steve...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 310-313 , 2021

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

15

RecessiveNOS1APvariants impair actin remodeling and cause g..:

Majmundar, Amar J. ; Buerger, Florian ; Forbes, Thomas A....
Science Advances. 7 (2021) 1 - p. , 2021

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