| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A novel germline Pregnane X Receptor (PXR) variant predisposing to Hodgkin lymphoma in two siblings
|
Khodzhaev, Khusan
|
|
|
72 |
C |
p.
|
article
|
| 2 |
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation
|
Arioka, Makoto
|
|
|
72 |
C |
p.
|
article
|
| 3 |
Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case
|
Grosen, Anne
|
|
|
72 |
C |
p.
|
article
|
| 4 |
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model
|
Nakato, Daisuke
|
|
|
72 |
C |
p.
|
article
|
| 5 |
Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing – A modeling study based on real-world data
|
Xi, Qin
|
|
|
72 |
C |
p.
|
article
|
| 6 |
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes
|
Zdolšek Draksler, Tanja
|
|
|
72 |
C |
p.
|
article
|
| 7 |
Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal
|
Barcia, Giulia
|
|
|
72 |
C |
p.
|
article
|
| 8 |
Feasibility study of the psychosocial effects of an online mindfulness intervention in children and adolescents with achondroplasia and their parents
|
Casellas, Àngel
|
|
|
72 |
C |
p.
|
article
|
| 9 |
Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene
|
Martín Gómez, María Adoración
|
|
|
72 |
C |
p.
|
article
|
| 10 |
Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR
|
Graversen, Lise
|
|
|
72 |
C |
p.
|
article
|
| 11 |
ITGB4-Related pyloric atresia without epidermolysis in two siblings
|
Aliyeva, Lamiya
|
|
|
72 |
C |
p.
|
article
|
| 12 |
Lessons learned from the RE(ACT) conference on medical devices for rare diseases
|
Jonker, Anneliene H.
|
|
|
72 |
C |
p.
|
article
|
| 13 |
Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania
|
Iman, Ali
|
|
|
72 |
C |
p.
|
article
|
| 14 |
Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force
|
Chen, Faye H.
|
|
|
72 |
C |
p.
|
article
|
| 15 |
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3
|
Cho, Tae-Joon
|
|
|
72 |
C |
p.
|
article
|
Journal description