Detalhe da pesquisa
1.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
J Med Genet
; 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940383
2.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442410
3.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057031
4.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173220
5.
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.
Mol Genet Metab
; 131(1-2): 219-228, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33012654
6.
Copy number alterations involving 59 ACMG-recommended secondary findings genes.
Clin Genet
; 98(6): 577-588, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33009833
7.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Clin Genet
; 97(6): 890-901, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266967
8.
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Hum Genet
; 137(3): 257-264, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556724
9.
Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.
Cytogenet Genome Res
; 156(2): 65-70, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30286452
10.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193138
11.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv
; 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293138
12.
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
J Clin Invest
; 131(5)2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33645542
13.
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Int J Neonatal Screen
; 6(4)2020 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33202836
14.
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
em Inglês
| MEDLINE | ID: mdl-31520839
15.
A case of de novo NAA10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome).
Seizure
; 60: 120-122, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29957440