| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Application of long read sequencing in rare diseases: The longer, the better?
|
Yu, Si-Yan
|
|
|
66 |
12 |
p.
|
artikel
|
| 2 |
Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review
|
Monda, Emanuele
|
|
|
66 |
12 |
p.
|
artikel
|
| 3 |
Clinical and molecular features of four families with CLDN10-related HELIX syndrome
|
Qudair, Ahmad
|
|
|
66 |
12 |
p.
|
artikel
|
| 4 |
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases
|
Priego Zurita, Ana Luisa
|
|
|
66 |
12 |
p.
|
artikel
|
| 5 |
Early-onset diabetes in Africa: A mini-review of the current genetic profile
|
Adadey, Samuel Mawuli
|
|
|
66 |
12 |
p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
|
66 |
12 |
p.
|
artikel
|
| 7 |
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark
|
Lildballe, Dorte L.
|
|
|
66 |
12 |
p.
|
artikel
|
| 8 |
Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
|
Yagasaki, Hideaki
|
|
|
66 |
12 |
p.
|
artikel
|
| 9 |
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome
|
Suzuki, Yasuyo
|
|
|
66 |
12 |
p.
|
artikel
|
| 10 |
Resolving fetal hydrops – A rare entity
|
Saxena, Deepti
|
|
|
66 |
12 |
p.
|
artikel
|
| 11 |
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression
|
Juul-Dam, Kristian L.
|
|
|
66 |
12 |
p.
|
artikel
|
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