Detalhe da pesquisa
1.
Decreased telomere length in children with cartilage-hair hypoplasia.
J Med Genet
; 54(5): 365-370, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27986801
2.
Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience.
Eur J Pediatr
; 174(6): 707-14, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25721923
3.
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.
J Allergy Clin Immunol
; 140(2): 612-614.e5, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28284971
4.
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia.
J Allergy Clin Immunol
; 139(1): 375-378, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27568079
5.
Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.
J Clin Immunol
; 37(6): 508-510, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28631025
6.
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.
Clin Dysmorphol
; 26(2): 121-123, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-27740950