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 |