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1 . Academic Journal
Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease
저자
by
Marasa, Maddalena
;
Ahram, Dina F.
;
Rehman, Atteeq U.
;
Mitrotti, Adele
;
Abhyankar, Avinash
, et al.
소스
In
Kidney International Reports
August 2023 8(8):1638-1647
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7 . Academic Journal
Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations
저자
by
Khan, Kamal
;
Ahram, Dina F.
;
Liu, Yangfan P.
;
Westland, Rik
;
Sampogna, Rosemary V.
, et al.
소스
In
Kidney International
March 2022 101(3):473-484
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7 . Periodical
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
저자
by
Ahram, Dina F.
;
Lim, Tze Y.
;
Ke, Juntao
;
Jin, Gina
;
Verbitsky, Miguel
, et al.
소스
Journal of the American Society of Nephrology; June 2023, Vol. 34 Issue: 6 p1105-1119, 15p
Web of Science
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7 . Academic Journal
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
저자
by
Barry, Alexandra
;
McNulty, Michelle T.
;
Jia, Xiaoyuan
;
Gupta, Yask
;
Debiec, Hanna
, et al.
소스
Nature Communications; 4/29/2023, Vol. 14 Issue 1, p1-13, 13p
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7 .
Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies
저자
by
Jain, Namrata G.
;
Ahram, Dina F.
;
Marasa, Maddalena
;
Rehman, Ateeq U.
;
May, Halie J.
, et al.
소스
In
Kidney International Reports
October 2022 7(10):2312-2316
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7 . Periodical
GWAS in Mice Maps Susceptibility to HIV-Associated Nephropathy to the Ssbp2Locus
저자
by
Steers, Nicholas J.
;
Gupta, Yask
;
D?Agati, Vivette D.
;
Lim, Tze Y.
;
DeMaria, Natalia
, et al.
소스
Journal of the American Society of Nephrology; January 2022, Vol. 33 Issue: 1 p108-120, 13p
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7 . Academic Journal
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
저자
by
Weng, Patricia L.
;
Majmundar, Amar J.
;
Khan, Kamal
;
Lim, Tze Y.
;
Shril, Shirlee
, et al.
소스
American Journal of Human Genetics
. Feb2021, Vol. 108 Issue 2, p357-367. 11p.
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7 . Academic Journal
A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report.
저자
by
Ahram, Dina F.
;
Al‐Sarraj, Yasser
;
Taha, Rowaida Z.
;
Elhag, Saba F.
;
Al‐Shaban, Fouad A.
, et al.
소스
Clinical Case Reports
. Jun2017, Vol. 5 Issue 6, p1013-1017. 5p.
Open Access (Wiley)
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7 . Periodical
Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels?
저자
by
Ahram, Dina F.
;
Aggarwal, Vimla S.
;
Sanna-Cherchi, Simone
.
소스
American Journal of Kidney Diseases; October 2020, Vol. 76 Issue: 4 p451-453, 3p
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5 . Academic Journal
Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.
저자
by
Ahram, Dina F.
;
Stambouli, Danae
;
Syrogianni, Aleksandra
;
Al‐Sarraj, Yasser
;
Gerou, Spyridon
, et al.
소스
Clinical Case Reports
. 12/1/2016, Vol. 4 Issue 12, p1125-1131. 7p.
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