Detalhe da pesquisa
1.
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
N Engl J Med
; 381(1): 25-35, 2019 07 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31269546
2.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35616647
3.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-29805043
4.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-33369125
5.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28942966
6.
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Am J Med Genet A
; 179(10): 2056-2066, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31407851
7.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-29740950
8.
Schaaf-Yang syndrome overview: Report of 78 individuals.
Am J Med Genet A
; 176(12): 2564-2574, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30302899
9.
The role of genomic approaches in diagnosis and management of primary immunodeficiency.
Curr Opin Pediatr
; 30(6): 791-797, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30234646
10.
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.
Am J Med Genet C Semin Med Genet
; 172C(1): 9-20, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26853229
11.
A Drosophila behavioral mutant, down and out (dao), is defective in an essential regulator of Erg potassium channels.
Proc Natl Acad Sci U S A
; 107(12): 5617-21, 2010 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-20212103
12.
Metabolic disruption in Drosophila bang-sensitive seizure mutants.
Genetics
; 173(3): 1357-64, 2006 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-16648587
13.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-28807008
14.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-28973083
15.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-26936850
16.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-31520839
17.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-21182840