Detalhe da pesquisa
1.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Am J Med Genet A
; 191(8): 2015-2044, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392087
2.
Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication.
Cytogenet Genome Res
; 162(1-2): 40-45, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35139523
3.
Movement Disorders and Neurometabolic Diseases.
Semin Pediatr Neurol
; 25: 82-91, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735120
4.
A child with Friedreich's ataxia and epilepsy.
J Child Neurol
; 20(3): 248-50, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15832621
5.
Clinical findings in Pelizaeus-Merzbacher disease.
J Child Neurol
; 19(5): 328-31, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15224705
6.
It's not just a vitamin: comment on "Rise in late onset vitamin K deficiency bleeding in young infants because of omission or refusal of prophylaxis at birth" by Schulte and colleagues.
Pediatr Neurol
; 52(3): e1-2, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25553862
7.
Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder.
J Child Neurol
; 23(8): 950-3, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18660478