Search details
1.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Article
in English
| MEDLINE | ID: mdl-28343629
2.
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Am J Hum Genet
; 99(3): 720-727, 2016 09 01.
Article
in English
| MEDLINE | ID: mdl-27545676
3.
Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling.
J Genet Couns
; 24(4): 654-62, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25403901
4.
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Genome Med
; 11(1): 30, 2019 05 17.
Article
in English
| MEDLINE | ID: mdl-31101064
Results
1 -
4
de 4
1
Next >
>>