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1 .
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome
저자
by
Mallory L, Downie
;
Sanjana, Gupta
;
Melanie M Y, Chan
;
Omid, Sadeghi-Alavijeh
;
Jingjing, Cao
, et al.
소스
Pediatric nephrology (Berlin, Germany)References
.
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7 .
Diverse ancestry whole-genome sequencing association study identifies
저자
by
Melanie M Y, Chan
;
Omid, Sadeghi-Alavijeh
;
Filipa M, Lopes
;
Alina C, Hilger
;
Horia C, Stanescu
, et al.
소스
eLife
. 11
Open Access (OpenAIRE)
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7 .
Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood
저자
by
Stephanie, Dufek-Kamperis
;
Robert, Kleta
;
Detlef, Bockenhauer
;
Daniel, Gale
;
Mallory L, Downie
.
소스
Pediatric nephrology (Berlin, Germany)
. 36(8)
Scopus
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7 .
Pseudouridylation defect due to
저자
by
Eszter, Balogh
;
Jennifer C, Chandler
;
Máté, Varga
;
Mona, Tahoun
;
Dóra K, Menyhárd
, et al.
소스
Proc Natl Acad Sci U S A
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7 .
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
저자
by
Polona, Le Quesne Stabej
;
Chela, James
;
Louise, Ocaka
;
Mehmet, Tekman
;
Stephanie, Grunewald
, et al.
소스
Orphanet Journal of Rare Diseases
Open Access (BioMed Central)
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7 .
Galactosylation of IgA1 Is Associated with Common Variation in
저자
by
Daniel P, Gale
;
Karen, Molyneux
;
David, Wimbury
;
Patricia, Higgins
;
Adam P, Levine
, et al.
소스
Journal of the American Society of Nephrology : JASN
. 28(7)
Open Access (OpenAIRE)
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7 .
Research capacity. Enabling the genomic revolution in Africa
저자
by
Charles, Rotimi
;
Akin, Abayomi
;
Alash'le, Abimiku
;
Victoria May, Adabayeri
;
Clement, Adebamowo
, et al.
소스
Open Access (OpenAIRE)
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7 .
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome
저자
by
J Helen, Cross
;
Ruchi, Arora
;
Rolf A, Heckemann
;
Roxana, Gunny
;
Kling, Chong
, et al.
소스
Developmental medicine and child neurology
. 55(9)
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7 .
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome
저자
by
Dorothy A, Thompson
;
Sally, Feather
;
Horia C, Stanescu
;
Bernard, Freudenthal
;
Anselm A, Zdebik
, et al.
소스
The Journal of physiology
. 589(Pt 7)
Full Text (Wiley)
Open Access (OpenAIRE)
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7 .
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5
저자
by
Marjan, Huizing
;
Richard, Hess
;
Heidi, Dorward
;
David A, Claassen
;
Amanda, Helip-Wooley
, et al.
소스
Traffic (Copenhagen, Denmark)
. 5(9)
Scopus
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