Detalhe da pesquisa
1.
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Am J Hum Genet
; 111(5): 841-862, 2024 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38593811
2.
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.
Proc Natl Acad Sci U S A
; 120(4): e2209964120, 2023 Jan 24.
Artigo
Inglês
| MEDLINE | ID: mdl-36669111
3.
Neurocutaneous Melanocytosis and Leptomeningeal Melanoma.
J Pediatr Hematol Oncol
; 43(2): e195-e197, 2021 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31764519
4.
Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes.
Epilepsy Behav
; 86: 131-137, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30006259
5.
Interaction of reelin signaling and Lis1 in brain development.
Nat Genet
; 35(3): 270-6, 2003 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-14578885
6.
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.
Am J Med Genet A
; 155A(7): 1574-80, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21638761
7.
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
Am J Med Genet A
; 155A(9): 2071-7, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21834044
8.
Neurology in a Pandemic.
Neurol Clin
; 39(3): 699-704, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34215381
9.
Novel Treatments and Clinical Research in Child Neurology.
Neurol Clin
; 39(3): 719-722, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34215383
10.
The Finances of Neurology in a Major Children's Hospital.
Neurol Clin
; 39(3): 689-697, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34215380
11.
Clinical Profile and Long-Term Outcome in Neonatal Cerebral Sinus Venous Thrombosis.
Pediatr Neurol
; 121: 20-25, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34126318
12.
Case report of prenatal bilateral cerebellar infarction: implications for social-behavioral functioning.
Clin Neuropsychol
; 33(5): 890-904, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30698067
13.
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Am J Med Genet A
; 146A(13): 1637-54, 2008 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18536050
14.
Pafah1b2 mutations suppress the development of hydrocephalus in compound Pafah1b1; Reln and Pafah1b1; Dab1 mutant mice.
Neurosci Lett
; 439(1): 100-5, 2008 Jul 04.
Artigo
Inglês
| MEDLINE | ID: mdl-18514414
15.
Evaluation of Safety in Exceeding Maximum Adult Doses of Commonly Used Second-Generation Antiepileptic Drugs in Pediatric Patients.
J Pediatr Pharmacol Ther
; 22(4): 256-260, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28943819
16.
Memento Akademia: Introduction and Editorial Regarding the State of Child Neurology.
Neurol Clin
; 39(3): xiii-xv, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34215393
17.
Platelet-Activating Factor Acetylhydrolase and Brain Development.
Enzymes
; 38: 37-42, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26612645
18.
Brain development and the genetics of brain development.
Neurol Clin
; 20(4): 917-39, 2002 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-12616675
19.
The classification of cortical dysplasias through molecular genetics.
Brain Dev
; 26(6): 351-62, 2004 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-15275695
20.
Cockayne Syndrome Complicated by Moyamoya Vasculopathy and Stroke.
Pediatr Neurol
; 86: 73-74, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30089552