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1.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37316189
2.
Rivaroxaban for Management of Venous Thromboembolism in Pediatric Nephrotic Syndrome; a Case Report and Review of Literature.
Pediatr Hematol Oncol
; 40(7): 688-695, 2023.
Article
in English
| MEDLINE | ID: mdl-36427068
3.
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
J Allergy Clin Immunol
; 139(6): 2016-2020.e5, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28111307
4.
Thromboembolism Incidence and Risk Factors in Children with Cancer: A Population-Based Cohort Study.
Thromb Haemost
; 118(9): 1646-1655, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-30103249
5.
Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinoma.
Cold Spring Harb Mol Case Stud
; 4(2)2018 04.
Article
in English
| MEDLINE | ID: mdl-29610391
6.
Congenital abnormalities of the inferior vena cava presenting clinically in adolescent males.
Thromb Res
; 135(4): 648-51, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25684212
7.
Development of attentional networks in childhood.
Neuropsychologia
; 42(8): 1029-40, 2004.
Article
in English
| MEDLINE | ID: mdl-15093142
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