E-LIB Suche - Ergebnisse für: Bryn D Webb

1

Metabolic Cases: Lactic Acidosis:

, In: Genomics in the Clinic,

Webb, Bryn D. ; Vernon, Hilary J. - p. 307-309 , 2024

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

2

An algorithm to identify patients aged 0–3 with rare geneti..:

Webb, Bryn D. ; Lau, Lisa Y. ; Tsevdos, Despina...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

Contributors:

, In: Genomics in the Clinic,

Albokhari, Daniah ; Ayoubieh, Houriya ; Balwani, Manisha... - p. xv-xviii , 2024

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

4

Oral Health-Related Quality of Life in Rare Disorders of Co..:

Liberton, Denise K. ; Almpani, Konstantinia ; Mishra, Rashmi...
International Journal of Environmental Research and Public Health. 21 (2024) 5 - p. 615 , 2024

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

5

P606: Finding answers for clinical exome-negative patients:..:

Meyn, Stephen ; Webb, Bryn ; Pavelek, Derek...
Genetics in Medicine Open. 2 (2024) - p. 101512 , 2024

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

6

Monozygotic twins discordant for a congenital cranial dysin..:

Gates, Ryan W. ; Webb, Bryn D. ; Stevenson, David A....
American Journal of Medical Genetics Part A. 191 (2023) 11 - p. 2743-2748 , 2023

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

7

Inability to move one's face dampens facial expression perc..:

Japee, Shruti ; Jordan, Jessica ; Licht, Judith...
Cortex. 169 (2023) - p. 35-49 , 2023

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

8

Noncoding variants alter GATA2 expression in rhombomere 4 m..:

Tenney, Alan P. ; Di Gioia, Silvio Alessandro ; Webb, Bryn D....
Nature Genetics. 55 (2023) 7 - p. 1149-1163 , 2023

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

9

Novel biallelic variants expand the phenotype of NAA20‐rela..:

D'Onofrio, Gianluca ; Cuccurullo, Claudia ; Larsen, Silje Kathrine...
Clinical Genetics. 104 (2023) 3 - p. 371-376 , 2023

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

10

Recessive pathogenic variants in MCAT cause combined oxidat..:

Nowinski, Sara M ; Webb, Bryn D ; Solmonson, Ashley...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

11

eP312: Exon level array utility in follow up to identificat..:

Aptekar, Leslie ; Lagoe, Erin Caine ; Shaw, Jay...
Genetics in Medicine. 24 (2022) 3 - p. S196-S197 , 2022

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

12

eP322: Comparison of genetic ancestry to self-reported ethn..:

Birch, Ashley ; Machado, Moara ; Webb, Bryn...
Genetics in Medicine. 24 (2022) 3 - p. S201 , 2022

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

13

A novel deleterious ETFA promoter variant causative of mult..:

Prasun, Pankaj ; Evans, Anthony ; Cork, Emalyn..
American Journal of Medical Genetics Part A. 191 (2022) 4 - p. 1089-1093 , 2022

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

14

Missense NAA20 variantsimpairing the NatB protein N-termina..:

Morrison, Jennifer ; Altuwaijri, Norah K. ; Brønstad, Kirsten...
Genetics in Medicine. 23 (2021) 11 - p. 2213-2218 , 2021

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

15

TUBB3 Arg262His causes a recognizable syndrome including CF..:

Whitman, Mary C. ; Barry, Brenda J. ; Robson, Caroline D....
Human Genetics. 140 (2021) 12 - p. 1709-1731 , 2021

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