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1 . Academic Journal
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
저자
by
Glenda M. Beaman
;
Filipa M. Lopes
;
Aybike Hofmann
;
Wolfgang Roesch
;
Martin Promm
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
Open Access (DOAJ)
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7 . Academic Journal
Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome
저자
by
J. Robert Harkness
;
Glenda M. Beaman
;
Keng W. Teik
;
Sangeet Sidhu
;
John A. Sayer
, et al.
소스
Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)
Full Text (ScienceDirect)
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7 . Academic Journal
SLC20A1 Is Involved in Urinary Tract and Urorectal Development
저자
by
Johanna Magdalena Rieke
;
Rong Zhang
;
Doreen Braun
;
Öznur Yilmaz
;
Anna S. Japp
, et al.
소스
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Open Access (DOAJ)
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7 . Academic Journal
The Genomic Architecture of Bladder Exstrophy Epispadias Complex
저자
by
Glenda M. Beaman
;
Raimondo M. Cervellione
;
David Keene
;
Heiko Reutter
;
William G. Newman
.
소스
Genes, Vol 12, Iss 8, p 1149 (2021)
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7 .
Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome
저자
by
Yanshan Liu
;
Siddharth Banka
;
Yingzhi Huang
;
Jonathan Hardman-Smart
;
Derek Pye
, et al.
소스
British Journal of Dermatology, 187(6), 948-961. Wiley
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7 .
Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease
저자
by
Celine Grenier
;
Filipa M. Lopes
;
Anna M. Cueto-González
;
Eulàlia Rovira-Moreno
;
Romy Gander
, et al.
소스
Kidney International Reports
.
Open Access (OpenAIRE)
Scopus
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7 .
Neurogenic defects underlie functional bladder outflow tract obstruction associated with biallelic variants inLRIG2
저자
by
Celine Grenier
;
Filipa M. Lopes
;
Anna M Cueto-González
;
Eulàlia Rovira-Moreno
;
Romy Gander
, et al.
소스
요약보기
Export
E-Mail
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RefWorks
7 .
Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome
저자
by
Sangeet Sidhu
;
J. Robert Harkness
;
John A. Sayer
;
Katherine A. Wood
;
Helen M. Stuart
, et al.
소스
Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)
Kidney International Reports
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
Open Access (OpenAIRE)
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Scopus
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RefWorks
7 .
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition
저자
by
Yanshan Liu
;
Siddharth Banka
;
Yingzhi Huang
;
Jonathan Hardman-Smart
;
Derek Pye
, et al.
소스
Open Access (OpenAIRE)
요약보기
Export
E-Mail
EndNote
RefWorks
7 .
Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy-epispadias complex
저자
by
Glenda M. Beaman
;
Adrian S. Woolf
;
Filipa M. Lopes
;
Shuang Andrew Guo
;
J. Robert Harkness
, et al.
소스
Journal of pediatric urology
. 18(3)
Full Text (Clinical Key)
Full Text (ScienceDirect)
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