Detalhe da pesquisa
1.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(3): 431-439, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100084
2.
Frequency and Complexity of De Novo Structural Mutation in Autism.
Am J Hum Genet
; 98(4): 667-79, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018473
3.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 108(12): 2385, 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861176
4.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735298
5.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(5): 826, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388405
6.
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Am J Med Genet A
; 170A(4): 992-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27001912
7.
The genetic landscape of autism spectrum disorders.
Dev Med Child Neurol
; 56(1): 12-8, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24116704
8.
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Nat Genet
; 54(9): 1284-1292, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35654974
9.
Use of multiplanar 3-dimensional ultrasonography for prenatal sex identification.
J Ultrasound Med
; 29(2): 195-202, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20103789
10.
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Hum Mutat
; 29(7): 959-65, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18446851
11.
Acardiac fetus: evidence in support of a vascular/hypoxia pathogenesis for isolated oral clefting.
Birth Defects Res A Clin Mol Teratol
; 82(8): 597-600, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18553490
12.
Paternally inherited cis-regulatory structural variants are associated with autism.
Science
; 360(6386): 327-331, 2018 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29674594
13.
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Nat Genet
; 54(8): 1259, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35768728
14.
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Nat Genet
; 47(7): 809-13, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26005868
15.
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Elife
; 4: e06602, 2015 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026149
16.
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Nat Genet
; 47(5): 528-34, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25848753
17.
The safe and effective use of propofol sedation in children undergoing diagnostic and therapeutic procedures: experience in a pediatric ICU and a review of the literature.
Pediatr Emerg Care
; 19(6): 385-92, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14676486
18.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Science
; 343(6170): 506-511, 2014 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-24482476
19.
Evidence-based recommendations for the diagnosis and treatment of pediatric acne.
Pediatrics
; 131 Suppl 3: S163-86, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23637225
20.
Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?
Am J Med Genet A
; 132A(3): 314-7, 2005 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-15690378