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1.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Am J Hum Genet
; 102(6): 1126-1142, 2018 06 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29805043
2.
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
Am J Med Genet A
; 185(3): 916-922, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33369125
3.
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
Am J Med Genet A
; 176(7): 1667-1669, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29740950
4.
The role of genomic approaches in diagnosis and management of primary immunodeficiency.
Curr Opin Pediatr
; 30(6): 791-797, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30234646
5.
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Genome Med
; 9(1): 73, 2017 08 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-28807008
6.
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
JAMA Pediatr
; 171(12): e173438, 2017 12 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28973083
7.
Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions.
JIMD Rep
; 30: 39-44, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26936850
8.
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.
J Allergy Clin Immunol Pract
; 8(3): 1103-1106.e3, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31520839
9.
In vivo 6-thioguanine-resistant T cells from melanoma patients have public TCR and share TCR beta amino acid sequences with melanoma-reactive T cells.
J Immunol Methods
; 365(1-2): 76-86, 2011 Feb 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-21182840
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