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Botto, Lorenzo D.
395
results:
Search for persons
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Format
Online (395)
Mediatypes
E-Books (1)
Articles (Online) (196)
Bookchapter (Online) (13)
OpenAccess-fulltext (185)
Languages
english (334)
spanish (6)
Sorted by: Relevance
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?
1
O20: Beyond the genome: RNA sequencing resolves unique diag..:
Lewis, Robert
;
Fulmer, Makenzie
;
Zhao, Jian
...
Genetics in Medicine Open. 2 (2024) - p. 101470 , 2024
Link:
https://doi.org/10.1016/..
?
2
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contri..:
Nicoletti, Paola
;
Zafer, Samreen
;
Matok, Lital
...
Genetics in Medicine Open. 2 (2024) - p. 101851 , 2024
Link:
https://doi.org/10.1016/..
?
3
Equity in action: The Diagnostic Working Group of The Undia..:
Palmer, Elizabeth Emma
;
Cederroth, Helene
;
Cederroth, Mikk
...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
4
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/..
?
5
Cardiovascular disease risk factors in congenital heart dis..:
Landstrom, Andrew P.
;
Spears, Tracy
;
D'Ottavio, Alfred
...
Pediatric Research. , 2024
Link:
https://doi.org/10.1038/..
?
6
P398: A rare report of a child with mosaic trisomy 4:
Bartik, Lauren
;
Repnikova, Elena
;
Rush, Eric
...
Genetics in Medicine Open. 2 (2024) - p. 101292 , 2024
Link:
https://doi.org/10.1016/..
?
7
Action against birth defects: if not now, when?:
Strong, Kathleen
;
Robb-McCord, Judith
;
Walani, Salimah
...
Global Health Action. 17 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1080/..
?
8
Racial and Ethnic Disparities in Health Care Usage and Deat..:
Raskind‐Hood, Cheryl L.
;
Kancherla, Vijaya
;
Ivey, Lindsey C.
...
Journal of the American Heart Association. 13 (2024) 11 - p. , 2024
Link:
https://doi.org/10.1161/..
?
9
MADD-LIKE PATTERN IN PLASMA ACYLCARNITINE PROFILE ASSOCIATE..:
Ingoglia, Filippo
;
Tanfous, Mohsen Ben
;
Ellezam, Benjamin
...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107426 , 2023
Link:
https://doi.org/10.1016/..
?
10
P462: Importance of genomic reanalysis to uncover medical u..:
Fulmer, Makenzie
;
Velinder, Matt
;
Andrews, Ashley
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100509 , 2023
Link:
https://doi.org/10.1016/..
?
11
P665: Recommendations for the improvement of diagnostic yie..:
Nicholas, Thomas
;
Farrell, Andrew
;
Rynearson, Shawn
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100730 , 2023
Link:
https://doi.org/10.1016/..
?
12
The effect of Navier slip on the rheology of a dilute two-d..:
Kamal, Catherine
;
Botto, Lorenzo
Journal of Fluid Mechanics. 972 (2023) - p. , 2023
Link:
https://doi.org/10.1017/..
?
13
A novel RAD51 variant resulting in Fanconi anemia identifie..:
Geilmann, Shelby
;
Solstad, Rachel
;
Palmquist, Rachel
...
Clinical Case Reports. 11 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1002/..
?
14
International Undiagnosed Diseases Programs (UDPs): compone..:
Curic, Ela
;
Ewans, Lisa
;
Pysar, Ryan
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
15
Hydrodynamic interactions change the buckling threshold of ..:
Perrin, Hugo
;
Li, Heng
;
Botto, Lorenzo
Physical Review Fluids. 8 (2023) 12 - p. , 2023
Link:
https://doi.org/10.1103/..
1-15