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1.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Am J Hum Genet
; 2024 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38843839
2.
C-type lectin receptors MR and DC-SIGN are involved in recognition of hemocyanins, shaping their immunostimulatory effects on human dendritic cells.
Eur J Immunol
; 51(7): 1715-1731, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33891704
3.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35980381
4.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33783954
5.
Gonyautoxins 2/3 Local Periarticular Injection for Pain Management after Total Knee Arthroplasty: A Double-Blind, Randomized Study.
J Knee Surg
; 36(4): 389-396, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34507361
6.
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.
Cold Spring Harb Mol Case Stud
; 4(3)2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29549119
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