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1 . Academic Journal
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
저자
by
Mah-Som, Annelise Y.
;
Daw, Jil
;
Huynh, Diana
;
Wu, Mengcheng
;
Creekmore, Benjamin C.
, et al.
소스
In
The American Journal of Human Genetics
2 November 2023 110(11):1959-1975
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7 . Periodical
Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans
저자
by
Hassani Nia, Fatemeh
;
Woike, Daniel
;
Bento, Isabel
;
Niebling, Stephan
;
Tibbe, Debora
, et al.
소스
Molecular Psychiatry; June 2024, Vol. 29 Issue: 6 p1683-1697, 15p
Web of Science
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7 . Academic Journal
Innate immune responses to Stenotrophomonas maltophilia in immunocompromised pediatric patients and the effect of taurolidine
저자
by
Härtel, Christoph
;
Scholz, Tasja
;
Kuhn, Marie
;
Bendiks, Meike
;
Göpel, Wolfgang
, et al.
소스
In
Journal of Microbiology, Immunology and Infection
April 2013 46(2):115-120
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7 . Academic Journal
TMCO3, a Putative K
+
:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans.
저자
by
Holling, Tess
;
Brylka, Laura
;
Scholz, Tasja
;
Bierhals, Tatjana
;
Herget, Theresia
, et al.
소스
Journal of Bone & Mineral Research; Sep2023, Vol. 38 Issue 9, p1334-1349, 16p
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7 . Academic Journal
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
저자
by
Manivannan, Sathiya N
;
Roovers, Jolien
;
Smal, Noor
;
Myers, Candace T
;
Turkdogan, Dilsad
, et al.
소스
Brain: A Journal of Neurology
. May2022, Vol. 145 Issue 5, p1684-1697. 14p.
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7 . Academic Journal
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
저자
by
Demal, Till Joscha
;
Scholz, Tasja
;
Schüler, Helke
;
Olfe, Jakob
;
Fröhlich, Anja
, et al.
소스
Scientific Reports
. 3/16/2022, Vol. 12 Issue 1, p1-12. 12p.
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7 . Academic Journal
Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen: Aktueller Stand, Herausforderungen, Perspektiven. (German)
저자
by
Scholz, Tasja
;
Dufke, Andreas
;
Haack, Tobias
;
Elbracht, Miriam
;
Eggermann, Thomas
, et al.
소스
Monatsschrift Kinderheilkunde; Jan2022, Vol. 170 Issue 1, p21-28, 8p
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7 . Academic Journal
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
저자
by
van der Ven, Amelie T.
;
Johannsen, Jessika
;
Kortüm, Fanny
;
Wagner, Matias
;
Tsiakas, Konstantinos
, et al.
소스
Clinical Genetics
. Dec2021, Vol. 100 Issue 6, p766-770. 5p.
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7 . Academic Journal
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
저자
by
Scholz, Tasja
;
Blohm, Martin Ernst
;
Kortüm, Fanny
;
Bierhals, Tatjana
;
Lessel, Davor
, et al.
소스
Neonatology (16617800)
. 2021, Vol. 118 Issue 4, p454-461. 8p.
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7 . Periodical
De novo loss-of-function variants in X-linked MED12are associated with Hardikar syndrome in females
저자
by
Li, Dong
;
Strong, Alanna
;
Shen, Kaitlyn M.
;
Cassiman, David
;
Van Dyck, Maria
, et al.
소스
Genetics in Medicine; April 2021, Vol. 23 Issue: 4 p637-644, 8p
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