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1 . Academic Journal
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay
저자
by
Kate L. Thomson
;
Connie Jiang
;
Ebony Richardson
;
Dominik S. Westphal
;
Tobias Burkard
, et al.
소스
HGG Advances, Vol 5, Iss 2, Pp 100270- (2024)
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7 . Academic Journal
The Role of RYR2 in Atrial Fibrillation
저자
by
Bernhard M. Boehm
;
Jochen Gaa
;
Petra Hoppmann
;
Eimo Martens
;
Dominik S. Westphal
.
소스
Case Reports in Cardiology, Vol 2023 (2023)
Open Access (Wiley)
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7 . Academic Journal
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
저자
by
Zheng Yie Yap
;
Yo Han Park
;
Saskia B. Wortmann
;
Adam C. Gunning
;
Shlomit Ezer
, et al.
소스
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
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7 . Academic Journal
Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins
저자
by
Martin Krenn
;
Margot Ernst
;
Matthias Tomschik
;
Marco Treven
;
Matias Wagner
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 6, Iss 11, Pp 2317-2322 (2019)
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7 . Academic Journal
Fetal Bradycardia Caused by Monogenic Disorders—A Review of the Literature
저자
by
Dominik S. Westphal
;
Michael Hauser
;
Britt-Maria Beckmann
;
Cordula M. Wolf
;
Gabriele Hessling
, et al.
소스
Journal of Clinical Medicine, Vol 11, Iss 23, p 6880 (2022)
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7 . Academic Journal
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
저자
by
Martin Krenn
;
Alexej Knaus
;
Dominik S. Westphal
;
Saskia B. Wortmann
;
Tilman Polster
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 968-973 (2019)
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7 . Academic Journal
Reclassification of genetic variants in children with long QT syndrome
저자
by
Dominik S. Westphal
;
Tobias Burkard
;
Alexander Moscu‐Gregor
;
Roman Gebauer
;
Gabriele Hessling
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
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7 . Academic Journal
MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34
저자
by
Dominik S. Westphal
;
Stephanie Andres
;
Christine Makowski
;
Thomas Meitinger
;
Julia Hoefele
.
소스
Frontiers in Genetics, Vol 9 (2018)
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7 . Academic Journal
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders
저자
by
Luana Niculescu
;
Matias Wagner
;
Dominik S. Westphal
;
Marcus Fischer
;
Walter Mihatsch
, et al.
소스
Acta Dermato-Venereologica, Vol 99, Iss 1, Pp 111-112 (2018)
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7 .
Genetic and phenotypic spectrum in the
NONO
‐associated syndromic disorder
저자
by
Franziska Roessler
;
Anita E. Beck
;
Ball Susie
;
Bartolomaeus Tobias
;
Amber Begtrup
, et al.
소스
American Journal of Medical Genetics Part A
. 191:469-478
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