Detalhe da pesquisa
1.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38044714
2.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Clin Genet
; 100(3): 329-333, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34037256
3.
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Am J Med Genet A
; 173(9): 2456-2460, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28631894
4.
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Genet Med
; 17(6): 460-6, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25232846
5.
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38355961
6.
Pure de novo partial trisomy 6p in a girl with craniosynostosis.
Am J Med Genet A
; 161A(2): 343-51, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23307468
7.
The effect of prolonged administration of hydroxyurea on morbidity and mortality in adult patients with sickle cell syndromes: results of a 17-year, single-center trial (LaSHS).
Blood
; 115(12): 2354-63, 2010 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-19903897
8.
239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype.
Mol Syndromol
; 12(5): 321-326, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-34602960
9.
Serum Dickkopf-1 is increased and correlates with reduced bone mineral density in patients with thalassemia-induced osteoporosis. Reduction post-zoledronic acid administration.
Haematologica
; 94(5): 725-8, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19407319
10.
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Apr 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38565641
11.
De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features.
Meta Gene
; 2: 274-82, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25606410