Detalhe da pesquisa
1.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Cell
; 154(3): 505-17, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911318
2.
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
3.
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
4.
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
5.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735298
6.
Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities.
JAMA
; 319(5): 474-482, 2018 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29411031
7.
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
8.
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
9.
The genetic landscape of autism spectrum disorders.
Dev Med Child Neurol
; 56(1): 12-8, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24116704
10.
Inside "Outside" Job: Unexpected Geometric Skin Ulcerations Overlying Orthopedic Hardware After Multimodal Laser Scar Revision.
Dermatol Surg
; 44(9): 1231-1233, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30141778
11.
Neural responses to affective speech, including motherese, map onto clinical and social eye tracking profiles in toddlers with ASD.
Nat Hum Behav
; 6(3): 443-454, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34980898
12.
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
13.
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
14.
Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.
PLoS One
; 14(10): e0223603, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31626646
15.
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
16.
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.
Am J Med Genet A
; 146A(22): 2885-90, 2008 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18925679
17.
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
18.
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
19.
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
20.
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