Detalhe da pesquisa
1.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
2.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
3.
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
Am J Med Genet A
; 176(12): 2901-2906, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30346094
4.
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Ann Neurol
; 80(4)2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27543892
5.
Neuroradiographic findings in 22q11.2 deletion syndrome.
Am J Med Genet A
; 173(8): 2158-2165, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28577347
6.
Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing.
J Med Genet
; 57(11): 794-796, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992579
7.
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
Am J Med Genet A
; 167(6): 1396-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899461
8.
7q11.23 Duplication syndrome: Physical characteristics and natural history.
Am J Med Genet A
; 167A(12): 2916-35, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333794
9.
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature.
Mol Cytogenet
; 12: 20, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131026
10.
De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.
Eur J Med Genet
; 62(1): 55-60, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29753921
11.
Intracranial Calcifications in Young Children.
Semin Pediatr Neurol
; 26: 135-139, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961505