Search details
1.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet
; 107(6): 1157-1169, 2020 12 03.
Article
in English
| MEDLINE | ID: mdl-33159883
2.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Hum Mutat
; 39(11): 1650-1659, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30095202
3.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Article
in English
| MEDLINE | ID: mdl-24381304
4.
The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.
J Am Acad Dermatol
; 72(4): 617-27, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25659225
5.
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.
J Mol Diagn
; 25(7): 524-531, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37088140
Results
1 -
5
de 5
1
Next >
>>