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Undiagnosed Diseases Network
171
results:
Search for persons
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Format
Online (171)
Mediatypes
Articles (Online) (99)
OpenAccess-fulltext (72)
Sorted by: Relevance
Sorted by: Year
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1
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:
Donkervoort, Sandra
;
Mohassel, Payam
;
O'Leary, Melanie
...
Annals of Clinical and Translational Neurology. 11 (2024) 3 - p. 629-640 , 2024
Link:
https://doi.org/10.1002/..
?
2
Recurrent ATP1A1 variant Gly903Arg causes developmental del..:
Dohrn, Maike F.
;
Bademci, Guney
;
Rebelo, Adriana P.
...
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 1075-1079 , 2024
Link:
https://doi.org/10.1002/..
?
3
Immunological and hematological findings as major features ..:
Stellacci, Emilia
;
Carter, Jennefer N.
;
Pannone, Luca
...
American Journal of Medical Genetics Part A. 194 (2024) 8 - p. , 2024
Link:
https://doi.org/10.1002/..
?
4
Undiagnosed Disease Network collaborative approach in diagn..:
Ezell, Kimberly M.
;
Tinker, Rory J.
;
Furuta, Yutaka
...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024
Link:
https://doi.org/10.1002/..
?
5
Heterozygous MAP3K20 variants cause ectodermal dysplasia, c..:
Brooks, Daniel
;
Burke, Elizabeth
;
Lee, Sukyeong
...
Human Genetics. 143 (2024) 3 - p. 279-291 , 2024
Link:
https://doi.org/10.1007/..
?
6
Reanalysis of RNA sequencing data ends diagnostic odyssey a..:
McNamee, Lucy
;
Schoch, Kelly
;
Huang, Alden
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
?
7
EFEMP1 haploinsufficiency causes a Marfan‐like hereditary c..:
Forghani, Irman
;
Lang, Steven H.
;
Rodier, Matthew J.
...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024
Link:
https://doi.org/10.1002/..
?
8
Novel molecular mechanism in Malan syndrome uncovered throu..:
Zhao, Jian
;
Longo, Nicola
;
Lewis, Robert G.
...
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024
Link:
https://doi.org/10.1002/..
?
9
Burden re-analysis of neurodevelopmental disorder cohorts f..:
Smal, Noor
;
Majdoub, Fatma
;
Janssens, Katrien
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
10
A second hotspot for pathogenic exon-skipping variants in C..:
Schoch, Kelly
;
Ruegg, Mischa S. G.
;
Fellows, Bridget J.
...
European Journal of Human Genetics. 32 (2024) 7 - p. 786-794 , 2024
Link:
https://doi.org/10.1038/..
?
11
A medical odyssey of a 72‐year‐old man with Charcot–Marie–T..:
Furuta, Yutaka
;
Nelson, Erica T.
;
Neumann, Serena M.
...
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2873-2877 , 2023
Link:
https://doi.org/10.1002/..
?
12
A Case Study of Dysfunctional Nicotinamide Metabolism in a ..:
DeBalsi, Karen L.
;
Newman, John H.
;
Sommerville, Laura J.
...
Metabolites. 13 (2023) 3 - p. 399 , 2023
Link:
https://doi.org/10.3390/..
?
13
De novo missense variants in ZBTB47 are associated with dev..:
Ward, Scott K.
;
Wadley, Alexandrea
;
Tsai, Chun‐hui (Anne)
...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 17-30 , 2023
Link:
https://doi.org/10.1002/..
?
14
Simulation of undiagnosed patients with novel genetic condi..:
Alsentzer, Emily
;
Finlayson, Samuel G.
;
Li, Michelle M.
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
15
H4C5 missense variant leads to a neurodevelopmental phenoty..:
Borja, Nicholas
;
Borjas‐Mendoza, Paulo
;
Bivona, Stephanie
...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1911-1916 , 2023
Link:
https://doi.org/10.1002/..
1-15