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/vufind/Search/Results?lookfor=%22Dworschak%2C+Gabriel+C%22&type=Person&sort=year
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PubPharm (50)
1
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
enthalten in:
NPJ genomic medicine
| 2024
von
Stegmann, J.
|
Kalanithy, J.
|
Dworschak, G.
| +69
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2
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation
enthalten in:
Biomolecules
| 2023
von
Köllges, R.
|
Stegmann, J.
|
Schneider, S.
| +19
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3
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
enthalten in:
Journal of medical genetics
| 2023
von
Kolvenbach, C.
|
Felger, T.
|
Schierbaum, L.
| +20
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4
Modelling human lower urinary tract malformations in zebrafish
enthalten in:
Molecular and cellular pediatrics
| 2023
von
Kolvenbach, C.
|
Dworschak, G.
|
Rieke, J.
| +4
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5
Modelling human lower urinary tract malformations in zebrafish
enthalten in:
Molecular and Cellular Pediatrics
| 2023
von
Kolvenbach, C.
|
Dworschak, G.
|
Rieke, J.
| +4
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6
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
enthalten in:
European journal of human genetics : EJHG
| 2023
von
Fabian, J.
|
Dworschak, G.
|
Waffenschmidt, L.
| +31
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7
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
enthalten in:
Communications biology
| 2022
von
Mingardo, E.
|
Beaman, G.
|
Grote, P.
| +63
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8
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
enthalten in:
American journal of medical genetics. Part A
| 2021
von
Kolvenbach, C.
|
van der Ven, A.
|
Kause, F.
| +25
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9
The Role of De Novo Variants in Formation of Human Anorectal Malformations
enthalten in:
Genes
| 2021
von
Dworschak, G.
|
van Rooij, I.
|
Reutter, H.
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10
Currarino syndrome : a comprehensive genetic review of a rare congenital disorder
enthalten in:
Orphanet journal of rare diseases
| 2021
von
Dworschak, G.
|
Reutter, H.
|
Ludwig, M.
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Orphanet journal of rare diseases
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Birth defects research. Part A, Clinical and mo...
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Nephrology, dialysis, transplantation : officia...
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21
Research Support, Non-U.S. Gov't
11
Research Support, N.I.H., Extramural
5
CAKUT
5
Review
5
Transcription Factors
4
Anorectal malformation
3
ARM
3
Congenital Anomalies of the Kidney and Urinary ...
3
DNA-Binding Proteins
3
Genetic kidney disease
3
Homeodomain Proteins
3
Kidney Development
3
Metanephric Mesenchyme
3
Monogenic disease
3
Multicystic Dysplastic Kidney
3
Nerve Tissue Proteins
3
Pathogenic Variant
3
Sort Intolerant From Tolerant
3
VATER/VACTERL association
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Erscheinungszeitraum
15
2020-
35
2010-2019
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