Search details
1.
De novo mutations in histone-modifying genes in congenital heart disease.
Nature
; 498(7453): 220-3, 2013 Jun 13.
Article
in English
| MEDLINE | ID: mdl-23665959
2.
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Nature
; 482(7383): 98-102, 2012 Jan 22.
Article
in English
| MEDLINE | ID: mdl-22266938
3.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Nat Med
; 29(3): 667-678, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36879130
4.
Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.
Mov Disord
; 27(4): 539-43, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22038564
5.
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Proc Natl Acad Sci U S A
; 106(45): 19096-101, 2009 Nov 10.
Article
in English
| MEDLINE | ID: mdl-19861545
6.
Rapid emergence of SARS-CoV-2 Omicron variant is associated with an infection advantage over Delta in vaccinated persons.
Med
; 3(5): 325-334.e4, 2022 05 13.
Article
in English
| MEDLINE | ID: mdl-35399324
7.
Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 variants Alpha and Iota.
Commun Biol
; 5(1): 439, 2022 05 11.
Article
in English
| MEDLINE | ID: mdl-35545661
8.
Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 lineages.
medRxiv
; 2021 Jul 02.
Article
in English
| MEDLINE | ID: mdl-34230938
9.
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.
Nat Med
; 26(11): 1754-1765, 2020 11.
Article
in English
| MEDLINE | ID: mdl-33077954
10.
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Nat Genet
; 52(10): 1046-1056, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32989326
11.
Performance comparison of one-color and two-color platforms within the MicroArray Quality Control (MAQC) project.
Nat Biotechnol
; 24(9): 1140-50, 2006 Sep.
Article
in English
| MEDLINE | ID: mdl-16964228
12.
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
Neuron
; 101(3): 429-443.e4, 2019 02 06.
Article
in English
| MEDLINE | ID: mdl-30578106
13.
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Nat Genet
; 53(3): 412, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-33432185
14.
Keck Foundation Biotechnology Resource Laboratory, Yale University.
Yale J Biol Med
; 80(4): 195-211, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-18449392
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