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1.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30827496
2.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genet Med
; 20(12): 1663-1676, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29907799
3.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Hum Genomics
; 9: 15, 2015 Jul 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-26187847
4.
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.
Am J Med Genet A
; 167A(3): 617-20, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25604768
5.
Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature.
J Pediatr Genet
; 11(4): 324-332, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36267861
6.
A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members.
Tremor Other Hyperkinet Mov (N Y)
; 12: 7, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35415007
7.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Neurol Genet
; 7(6): e613, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34790866
8.
Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
Am J Med Genet A
; 167(6): 1414-7, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25899944
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