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1 . Academic Journal
P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions
저자
by
Nidhi Shah
;
Nina Gold
;
Sophia Adelson
;
Shardae Williams
;
Sarah Bick
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100444- (2023)
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7 . Academic Journal
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches
저자
by
Verena Klämbt
;
Youying Mao
;
Ronen Schneider
;
Florian Buerger
;
Hanan Shamseldin
, et al.
소스
Kidney International Reports, Vol 6, Iss 2, Pp 460-471 (2021)
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7 . Academic Journal
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
저자
by
Shazia Ashraf
;
Hiroki Kudo
;
Jia Rao
;
Atsuo Kikuchi
;
Eugen Widmeier
, et al.
소스
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
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7 . Academic Journal
Case 9-2023: A 20-Year-Old Man with Shortness of Breath and Proteinuria.
저자
by
Fitzgerald, Shaun F.
;
Victoria, Teresa
;
Weizhen Tan
;
Harris, Cynthia K.
.
소스
New England Journal of Medicine
. 3/23/2023, Vol. 388 Issue 12, p1127-1135. 9p.
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6 .
Case 9-2023: A 20-Year-Old Man with Shortness of Breath and Proteinuria
저자
by
Shaun F. Fitzgerald
;
Teresa Victoria
;
Weizhen Tan
;
Cynthia K. Harris
.
소스
New England Journal of Medicine
. 388:1127-1135
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6 .
Staphylococcus Epidermidis as a Uropathogen in Children
저자
by
Grant Steele
;
Weizhen Tan
;
Chadi El Saleeby
;
Kerstin Zanger
.
소스
Urology
.
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6 .
Approach to pediatric renal disorders
저자
by
Nina Mann
;
Weizhen Tan
.
소스
Encyclopedia of Child and Adolescent Health ISBN: 9780128188736
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4 . Academic Journal
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
저자
by
Ashraf, Shazia
;
Hiroki Kudo
;
Rao, Jia
;
Atsuo Kikuchi
;
Widmeier, Eugen
, et al.
소스
Nature Communications; 5/17/2018, Vol. 9 Issue 1, p1-14, 14p
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7 . Academic Journal
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
저자
by
Warejkov, Jillian K.
;
Schueler, Markus
;
Vivante, Asaf
;
Weizhen Tan
;
Daga, Ankana
, et al.
소스
Hypertension (0194911X); Apr2018, Vol. 71 Issue 4, p691-699, 9p, 1 Diagram, 3 Charts, 1 Graph
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7 .
Perspectives of Rare Disease Experts on Newborn Genome Sequencing
저자
by
Nina B. Gold
;
Sophia M. Adelson
;
Nidhi Shah
;
Shardae Williams
;
Sarah L. Bick
, et al.
소스
JAMA Network Open
. 6:e2312231
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