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1 . Academic Journal
Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome
저자
by
Ramond, Francis
;
Dalgliesh, Caroline
;
Grimmel, Mona
;
Wechsberg, Oded
;
Vetro, Annalisa
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Periodical
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
저자
by
Schmidt, Axel
;
Danyel, Magdalena
;
Grundmann, Kathrin
;
Brunet, Theresa
;
Klinkhammer, Hannah
, et al.
소스
Nature Genetics; August 2024, Vol. 56 Issue: 8 p1644-1653, 10p
Web of Science
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7 . Academic Journal
Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation.
저자
by
Lederbogen, Rosa Catalina
;
Hoffjan, Sabine
;
Thiels, Charlotte
;
Mau-Holzmann, Ulrike Angelika
;
Singer, Sylke
, et al.
소스
Genes
. Jun2024, Vol. 15 Issue 6, p809. 8p.
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7 . Academic Journal
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
저자
by
Thiels, Charlotte
;
Lücke, Thomas
;
Rothoeft, Tobias
;
Lukas, Carsten
;
Nguyen, Huu P.
, et al.
소스
Neuropediatrics
. Apr2024, Vol. 55 Issue 2, p140-145. 6p.
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7 . Academic Journal
Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients
저자
by
Varzari, Alexander
;
Bruch, Kathrin
;
Deyneko, Igor V.
;
Chan, Andrew
;
Epplen, Joerg T.
, et al.
소스
In
Journal of Neuroimmunology
15 December 2014 277(1-2):140-144
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7 . Academic Journal
High creatine kinase levels and white matter changes: Clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency
저자
by
Beytía, Maria de los Angeles
;
Dekomien, Gabriele
;
Hoffjan, Sabine
;
Haug, Verena
;
Anastasopoulos, Constantin
, et al.
소스
In
Molecular and Cellular Probes
August 2014 28(4):118-122
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7 . Academic Journal
High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections
저자
by
Kathiravel, Ushanthine
;
Keyser, Britta
;
Hoffjan, Sabine
;
Kötting, Judith
;
Müller, Melanie
, et al.
소스
In
Molecular and Cellular Probes
April 2013 27(2):103-108
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7 . Academic Journal
Association of serotonin-1A and -2A receptor promoter polymorphisms with depressive symptoms, functional recovery, and pain in patients 6 months after lumbar disc surgery
저자
by
Lebe, Moritz
;
Hasenbring, Monika I.
;
Schmieder, Kirsten
;
Jetschke, Kathleen
;
Harders, Albrecht
, et al.
소스
In
Pain
March 2013 154(3):377-384
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7 . Academic Journal
Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature.
저자
by
Rossler, Leon
;
Lemburg, Stefan
;
Weitkämper, Almut
;
Thiels, Charlotte
;
Hoffjan, Sabine
, et al.
소스
Journal of Ultrasound; Dec2023, Vol. 26 Issue 4, p757-764, 8p
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7 . Academic Journal
A 21-year-old woman with progressive asymptomatic skin laxity in flexural regions.
저자
by
Gambichler, Thilo
;
Hoffjan, Sabine
;
Nagel, Mato
;
Terschlüsen, Meike
;
Mansour, Rita
, et al.
소스
Clinical & Experimental Dermatology
. Oct2023, Vol. 48 Issue 10, p1198-1201. 4p. 2 Color Photographs.
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