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1.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
; 109(9): 1713-1723, 2022 09 01.
Article
in English
| MEDLINE | ID: mdl-35948005
2.
Characterizing morphologic subtypes of high-grade serous ovarian cancer by CT: a retrospective cohort study.
Int J Gynecol Cancer
; 33(6): 937-943, 2023 06 05.
Article
in English
| MEDLINE | ID: mdl-36948527
3.
Reduced-Dose Deep Learning Reconstruction for Abdominal CT of Liver Metastases.
Radiology
; 303(1): 90-98, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35014900
4.
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Hum Genet
; 137(1): 105-109, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29288388
5.
Expanding the genetic heterogeneity of intellectual disability.
Hum Genet
; 136(11-12): 1419-1429, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28940097
6.
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.
Pediatr Neurol
; 155: 149-155, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38653183
7.
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
medRxiv
; 2024 Mar 21.
Article
in English
| MEDLINE | ID: mdl-38562757
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