| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR
|
Narusawa, Hiromune
|
|
|
65 |
6 |
p.
|
artikel
|
| 2 |
A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability
|
Krami, Al Mehdi
|
|
|
65 |
6 |
p.
|
artikel
|
| 3 |
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study
|
Demolder, Anthony
|
|
|
65 |
6 |
p.
|
artikel
|
| 4 |
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1
|
Sabbagh, Quentin
|
|
|
65 |
6 |
p.
|
artikel
|
| 5 |
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing
|
Masih, Suzena
|
|
|
65 |
6 |
p.
|
artikel
|
| 6 |
Diagnostic yield of exome sequencing in congenital vertical talus
|
Tayebi, Naeimeh
|
|
|
65 |
6 |
p.
|
artikel
|
| 7 |
Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?
|
Yıldız Bölükbaşı, Esra
|
|
|
65 |
6 |
p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
|
65 |
6 |
p.
|
artikel
|
| 9 |
Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome
|
Ünal Yüksekgönül, Ayşe
|
|
|
65 |
6 |
p.
|
artikel
|
| 10 |
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review
|
Gangaram, Balram
|
|
|
65 |
6 |
p.
|
artikel
|
| 11 |
Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
|
Steg Saban, Or
|
|
|
65 |
6 |
p.
|
artikel
|
| 12 |
Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations
|
Cingöz, Sultan
|
|
|
65 |
6 |
p.
|
artikel
|
| 13 |
Novel mutations in EPO-R and oxygen-dependent degradation (ODD) domain of EPAS1 genes-a causative reason for Congenital Erythrocytosis
|
Echambadi Loganathan, Samundeshwari
|
|
|
65 |
6 |
p.
|
artikel
|
| 14 |
Orbital nodular fasciitis in child with biallelic germline RBL2 variant
|
Rips, Jonathan
|
|
|
65 |
6 |
p.
|
artikel
|
| 15 |
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
|
Yamada, Mamiko
|
|
|
65 |
6 |
p.
|
artikel
|
| 16 |
Psychological predictors of cancer patients' and their relatives’ attitudes towards the return of genomic sequencing results
|
Meiser, Bettina
|
|
|
65 |
6 |
p.
|
artikel
|
| 17 |
Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
|
Majethia, Purvi
|
|
|
65 |
6 |
p.
|
artikel
|
| 18 |
Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants
|
Choy, Nicole
|
|
|
65 |
6 |
p.
|
artikel
|
| 19 |
Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles
|
Girisha, Katta M.
|
|
|
65 |
6 |
p.
|
artikel
|
| 20 |
The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas
|
Diociaiuti, Andrea
|
|
|
65 |
6 |
p.
|
artikel
|
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