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Webb, Bryn D.
94
results:
Search for persons
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Online (94)
Mediatypes
Articles (Online) (46)
Bookchapter (Online) (2)
OpenAccess-fulltext (46)
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?
1
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/..
?
2
Contributors:
, In:
Genomics in the Clinic
,
Albokhari, Daniah
;
Ayoubieh, Houriya
;
Balwani, Manisha
... - p. xv-xviii , 2024
Link:
https://doi.org/10.1016/..
?
3
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/..
?
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
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/..
?
6
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/..
?
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
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
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
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/..
?
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
Differentiating Moebius syndrome and other congenital facia..:
Lehky, Tanya
;
Joseph, Reversa
;
Toro, Camilo
...
Muscle & Nerve. 63 (2021) 4 - p. 516-524 , 2021
Link:
https://doi.org/10.1002/..
1-15