| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Advantages of current fetal neuroimaging and genomic technologies in prenatal diagnosis: A clinical case
|
M Almeida, Pedro
|
|
|
66 |
1 |
p.
|
artikel
|
| 2 |
An update on molecular features and therapeutic perspectives of pediatric classical Hodgkin Lymphoma. What the clinician needs to know?
|
Simonin, Mathieu
|
|
|
66 |
1 |
p.
|
artikel
|
| 3 |
Australian public perspectives on genomic data storage and sharing: Benefits, concerns and access preferences
|
Lynch, Fiona
|
|
|
66 |
1 |
p.
|
artikel
|
| 4 |
Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR
|
Urakawa, Tatsuki
|
|
|
66 |
1 |
p.
|
artikel
|
| 5 |
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease
|
Putotto, Carolina
|
|
|
66 |
1 |
p.
|
artikel
|
| 6 |
Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review
|
Yu, Chaonan
|
|
|
66 |
1 |
p.
|
artikel
|
| 7 |
Compound heterozygous variants in SPNS2 cause sensorineural hearing loss
|
Mardani, Saba
|
|
|
66 |
1 |
p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
|
66 |
1 |
p.
|
artikel
|
| 9 |
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
|
Delanne, Julian
|
|
|
66 |
1 |
p.
|
artikel
|
| 10 |
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN
|
Caruana, Maryanne
|
|
|
66 |
1 |
p.
|
artikel
|
| 11 |
Individual experiences and issues in predictive genetic testing for untreatable hereditary neuromuscular diseases in Japan
|
Kimura, Midori
|
|
|
66 |
1 |
p.
|
artikel
|
| 12 |
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay
|
Rieger, Melissa
|
|
|
66 |
1 |
p.
|
artikel
|
| 13 |
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7
|
Ledger, Marissa L.
|
|
|
66 |
1 |
p.
|
artikel
|
| 14 |
Rare embryonal and sarcomatous central nervous system tumours: State-of-the art and future directions
|
Gojo, Johannes
|
|
|
66 |
1 |
p.
|
artikel
|
| 15 |
Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary
|
Bukowska-Olech, Ewelina
|
|
|
66 |
1 |
p.
|
artikel
|
| 16 |
Retinoblastoma: From genes to patient care
|
Bouchoucha, Y.
|
|
|
66 |
1 |
p.
|
artikel
|
| 17 |
SMAD4 loss-of-function mutation predisposes to congenital heart disease
|
Wang, Yin
|
|
|
66 |
1 |
p.
|
artikel
|
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