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1 . Academic Journal
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
저자
by
Maroofian, Reza
;
Zamani, Mina
;
Kaiyrzhanov, Rauan
;
Liebmann, Lutz
;
Karimiani, Ehsan Ghayoor
, et al.
소스
In
Genetics in Medicine
March 2024 26(3)
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7 . Academic Journal
A common variation in HCN1 is associated with heart rate variability in schizophrenia
저자
by
Refisch, Alexander
;
Chung, Ha-Yeun
;
Komatsuzaki, Shoko
;
Schumann, Andy
;
Mühleisen, Thomas W.
, et al.
소스
In
Schizophrenia Research
March 2021 229:73-79
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7 . Academic Journal
Structural and functional annotation of PR/SET Domain (PRDM) protein family: In-silico study elaborating role of PRDM12 mutation in congenital insensitivity to pain
저자
by
Mehmood, Sarmad
;
Dad, Rubina
;
Ahmad, Arsalan
;
Ullah, Muhammad Ikram
;
John, Peter
, et al.
소스
In
Computational Biology and Chemistry
December 2020 89
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7 . Academic Journal
Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia
저자
by
Shmukler, Boris E.
;
Rivera, Alicia
;
Bhargava, Parul
;
Nishimura, Katherine
;
Kim, Edward H.
, et al.
소스
In
Blood Cells, Molecules and Diseases
March 2020 81
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7 . Academic Journal
Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease
저자
by
Shmukler, Boris E.
;
Rivera, Alicia
;
Bhargava, Parul
;
Nishimura, Katherine
;
Hsu, Ann
, et al.
소스
In
Blood Cells, Molecules and Diseases
November 2019 79
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7 . Academic Journal
Knockdown of INPP5K compromises the differentiation of N2A cells.
저자
by
Manzolillo, Annamaria
;
Gresing, Lennart
;
Hübner, Christian A.
;
Franzka, Patricia
.
소스
Frontiers in Molecular Neuroscience; 2024, p1-9, 9p
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6 . Academic Journal
Consequences of GMPPB deficiency for neuromuscular development and maintenance.
저자
by
Schurig, Mona K.
;
Umeh, Obinna
;
Henze, Henriette
;
Jung, M. Juliane
;
Gresing, Lennart
, et al.
소스
Frontiers in Molecular Neuroscience; 2024, p1-10, 10p
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7 . Academic Journal
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
저자
by
Krumm, Laura
;
Pozner, Tatyana
;
Zagha, Naime
;
Coras, Roland
;
Arnold, Philipp
, et al.
소스
Acta Neuropathologica
. 2024, Vol. 147 Issue 1, p1-25. 25p.
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7 . Academic Journal
Slc12a2 loss in insulin-secreting β-cells links development of overweight and metabolic dysregulation to impaired satiation control of feeding.
저자
by
Rathod, Yakshkumar Dilipbhai
;
Abdelgawad, Rana
;
Hübner, Christian A.
;
Di Fulvio, Mauricio
.
소스
American Journal of Physiology: Endocrinology & Metabolism
. Nov2023, Vol. 325 Issue 5, pE581-E594. 14p.
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6 . Academic Journal
Inhibition of Carbonic Anhydrase Augments GABAA Receptor-Mediated Analgesia via a Spinal Mechanism of Action
저자
by
Asiedu, Marina N.
;
Mejia, Galo L.
;
Hübner, Christian A.
;
Kaila, Kai
;
Price, Theodore J.
.
소스
In
Journal of Pain
April 2014 15(4):395-406
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