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1 . Academic Journal
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5’-untranslated region of UNC45A
저자
by
Almaas, Runar
;
Atneosen-Åsegg, Monica
;
Ytre-Arne, Mari Eknes
;
Melheim, Maria
;
Sorte, Hanne Sørmo
, et al.
소스
In
Journal of Hepatology
October 2023 79(4):945-954
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7 . Academic Journal
Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.
저자
by
Zielen, Stefan
;
Crawford, Thomas
;
Benatti, Luca
;
Magnani, Mauro
;
Kieslich, Matthias
, et al.
소스
Lancet Neurology
. Sep2024, Vol. 23 Issue 9, p871-882. 12p.
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7 . Academic Journal
How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms.
저자
by
Baliakas, Panagiotis
;
Tesi, Bianca
;
Cammenga, Jörg
;
Stray‐Pedersen, Asbjørg
;
Jahnukainen, Kirsi
, et al.
소스
HemaSphere; Aug2024, Vol. 8 Issue 8, p1-5, 5p
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Open Access (Wiley)
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7 . Academic Journal
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
저자
by
Chinn, Ivan K.
;
Eckstein, Olive S.
;
Peckham-Gregory, Erin C.
;
Goldberg, Baruch R.
;
Forbes, Lisa R.
, et al.
소스
In
Blood
5 July 2018 132(1):89-100
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7 . Academic Journal
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
저자
by
Stray-Pedersen, Asbjørg
;
Sorte, Hanne Sørmo
;
Samarakoon, Pubudu
;
Gambin, Tomasz
;
Chinn, Ivan K.
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
January 2017 139(1):232-245
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7 . Academic Journal
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
저자
by
Yu, Hui
;
Zhang, Victor Wei
;
Stray-Pedersen, Asbjørg
;
Hanson, Imelda Celine
;
Forbes, Lisa R.
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
October 2016 138(4):1142-1151
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7 . Academic Journal
Two male sibs with severe micrognathia and a missense variant in MED12
저자
by
Prescott, Trine E.
;
Kulseth, Mari Ann
;
Heimdal, Ketil R.
;
Stadheim, Barbro
;
Hopp, Einar
, et al.
소스
In
European Journal of Medical Genetics
August 2016 59(8):367-372
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7 . Academic Journal
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
저자
by
Milner, Joshua D.
;
Vogel, Tiphanie P.
;
Forbes, Lisa
;
Ma, Chi A.
;
Stray-Pedersen, Asbjørg
, et al.
소스
In
Blood
22 January 2015 125(4):591-599
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7 . Academic Journal
Long‐Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia Telangiectasia.
저자
by
Presterud, Rebecca
;
Deng, Wei Hai
;
Wennerström, Anna Berit
;
Burgers, Trudy
;
Gajera, Bharat
, et al.
소스
Movement Disorders
. Feb2024, Vol. 39 Issue 2, p360-369. 10p.
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7 . Academic Journal
Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation.
저자
by
Tsykunova, Galina
;
Kristensen, Erle
;
Stray-Pedersen, Asbjørg
;
Bruserud, Øyvind
;
Sørensen, Ida Wiig
, et al.
소스
Hematology
. Dec2023, Vol. 28 Issue 1, p1-4. 4p.
Open Access (T&F)
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