nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A novel germline Pregnane X Receptor (PXR) variant predisposing to Hodgkin lymphoma in two siblings
|
Khodzhaev, Khusan |
|
|
72 |
C |
p. |
artikel |
2 |
ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation
|
Arioka, Makoto |
|
|
72 |
C |
p. |
artikel |
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. |
artikel |
4 |
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model
|
Nakato, Daisuke |
|
|
72 |
C |
p. |
artikel |
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. |
artikel |
6 |
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes
|
Zdolšek Draksler, Tanja |
|
|
72 |
C |
p. |
artikel |
7 |
Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal
|
Barcia, Giulia |
|
|
72 |
C |
p. |
artikel |
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. |
artikel |
9 |
Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene
|
Martín Gómez, María Adoración |
|
|
72 |
C |
p. |
artikel |
10 |
Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR
|
Graversen, Lise |
|
|
72 |
C |
p. |
artikel |
11 |
ITGB4-Related pyloric atresia without epidermolysis in two siblings
|
Aliyeva, Lamiya |
|
|
72 |
C |
p. |
artikel |
12 |
Lessons learned from the RE(ACT) conference on medical devices for rare diseases
|
Jonker, Anneliene H. |
|
|
72 |
C |
p. |
artikel |
13 |
Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania
|
Iman, Ali |
|
|
72 |
C |
p. |
artikel |
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. |
artikel |
15 |
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3
|
Cho, Tae-Joon |
|
|
72 |
C |
p. |
artikel |