| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant
|
Hashmi, Jamil Amjad
|
|
2019
|
62 |
2 |
p. 124-128
|
artikel
|
| 2 |
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family
|
Caridi, Gianluca
|
|
2019
|
62 |
2 |
p. 144-148
|
artikel
|
| 3 |
Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum
|
Luyckx, Ilse
|
|
2019
|
62 |
2 |
p. 96
|
artikel
|
| 4 |
A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin
|
Takenouchi, Toshiki
|
|
2019
|
62 |
2 |
p. 93-95
|
artikel
|
| 5 |
Detection of fetal subchromosomal aberration with cell-free DNA screening led to diagnosis of parental translocation: Review of 11344 consecutive cases in a university hospital
|
Qian, Ye-Qing
|
|
2019
|
62 |
2 |
p. 115-123
|
artikel
|
| 6 |
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants
|
Chen, Hongbo
|
|
2019
|
62 |
2 |
p. 149-160
|
artikel
|
| 7 |
Editorial Board
|
|
|
2019
|
62 |
2 |
p. ii
|
artikel
|
| 8 |
Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication
|
Qiao, Ying
|
|
2019
|
62 |
2 |
p. 103-108
|
artikel
|
| 9 |
Expanding the phenotypic spectrum associated with OPHN1 variants
|
Schwartz, Talia S.
|
|
2019
|
62 |
2 |
p. 137-143
|
artikel
|
| 10 |
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay
|
Low, Karen J.
|
|
2019
|
62 |
2 |
p. 97-102
|
artikel
|
| 11 |
Is MED13L-related intellectual disability a recognizable syndrome?
|
Tørring, Pernille Mathiesen
|
|
2019
|
62 |
2 |
p. 129-136
|
artikel
|
| 12 |
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature
|
Balasubramanian, Meena
|
|
2019
|
62 |
2 |
p. 109-114
|
artikel
|
| 13 |
Oro-dental phenotype in patients with RUNX2 duplication
|
Merametdjian, Laure
|
|
2019
|
62 |
2 |
p. 85-89
|
artikel
|
| 14 |
The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort
|
Kranenburg, Guido
|
|
2019
|
62 |
2 |
p. 90-92
|
artikel
|
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