| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics
|
Erbs, Emilie
|
|
|
66 |
3 |
p.
|
artikel
|
| 2 |
An intermediate phenotype in IDH related enchondromatosis spectrum
|
Yilmaz-Gulec, Elif
|
|
|
66 |
3 |
p.
|
artikel
|
| 3 |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
|
Abdelrazek, Ibrahim M.
|
|
|
66 |
3 |
p.
|
artikel
|
| 4 |
Editorial Board
|
|
|
|
66 |
3 |
p.
|
artikel
|
| 5 |
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants
|
Poole, Rebecca L.
|
|
|
66 |
3 |
p.
|
artikel
|
| 6 |
FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies
|
Turgut, Gozde Tutku
|
|
|
66 |
3 |
p.
|
artikel
|
| 7 |
Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13
|
Geng, Wenjin
|
|
|
66 |
3 |
p.
|
artikel
|
| 8 |
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation
|
Fiumara, Agata
|
|
|
66 |
3 |
p.
|
artikel
|
| 9 |
Rare. The importance of research, analysis, reporting and education in ‘solving’ the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE
|
Nott, E.
|
|
|
66 |
3 |
p.
|
artikel
|
| 10 |
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine
|
Lester, Emilie Boye
|
|
|
66 |
3 |
p.
|
artikel
|
| 11 |
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy
|
Shi, Hong-Yu
|
|
|
66 |
3 |
p.
|
artikel
|
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