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1 . Academic Journal
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases
저자
by
Kolarova, Hana
;
Tan, Jing
;
Strom, Tim M.
;
Meitinger, Thomas
;
Wagner, Matias
, et al.
소스
In
eBioMedicine
March 2022 77
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7 . Academic Journal
TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype
저자
by
Cenni, Camille
;
Andres, Stephanie
;
Hempel, Maja
;
Strom, Tim M.
;
Thomas, Ellen
, et al.
소스
In
European Journal of Medical Genetics
July 2021 64(7)
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7 . Academic Journal
Novel mosaic variants in two patients with Cornelia de Lange syndrome
저자
by
Pozojevic, Jelena
;
Parenti, Ilaria
;
Graul-Neumann, Luitgard
;
Ruiz Gil, Sara
;
Watrin, Erwan
, et al.
소스
In
European Journal of Medical Genetics
November 2018 61(11):680-684
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7 . Academic Journal
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
저자
by
Logullo, Francesco O.
;
Simone, Isabella
;
Logroscino, Giancarlo
;
Salvi, Fabrizio
;
Bartolomei, Ilaria
, et al.
소스
In
Neuron
21 March 2018 97(6):1267-1288
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7 . Academic Journal
Molecular Integration of Incretin and Glucocorticoid Action Reverses Immunometabolic Dysfunction and Obesity
저자
by
Quarta, Carmelo
;
Clemmensen, Christoffer
;
Zhu, Zhimeng
;
Yang, Bin
;
Joseph, Sini S.
, et al.
소스
In
Cell Metabolism
3 October 2017 26(4):620-632
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7 . Academic Journal
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
저자
by
Kloth, Katja
;
Denecke, Jonas
;
Hempel, Maja
;
Johannsen, Jessika
;
Strom, Tim M.
, et al.
소스
In
European Journal of Medical Genetics
September 2017 60(9):494-498
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7 . Academic Journal
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden
저자
by
Weyen, Ute
;
Hermann, Andreas
;
Regensburger, Martin
;
Winkler, Jürgen
;
Linker, Ralf
, et al.
소스
In
Neurobiology of Aging
March 2020 87:139-139
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7 . Academic Journal
An ENU Mutagenesis-Derived Mouse Model with a Dominant Jak1 Mutation Resembling Phenotypes of Systemic Autoimmune Disease
저자
by
Sabrautzki, Sibylle
;
Janas, Eva
;
Lorenz-Depiereux, Bettina
;
Calzada-Wack, Julia
;
Aguilar-Pimentel, Juan A.
, et al.
소스
In
The American Journal of Pathology
August 2013 183(2):352-368
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7 . Academic Journal
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
저자
by
Zech, Michael
;
Boesch, Sylvia
;
Škorvánek, Matej
;
Necpál, Ján
;
Švantnerová, Jana
, et al.
소스
In
Parkinsonism and Related Disorders
March 2021 84:129-134
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7 . Academic Journal
Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene
저자
by
Østern, Rune
;
Fagerheim, Toril
;
Ørstavik, Kristin
;
Holmøy, Trygve
;
Heiberg, Arvid
, et al.
소스
In
Neuromuscular Disorders
June 2012 22(6):511-521
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