| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing
|
Colombi, Marina
|
|
2018
|
61 |
1 |
p. 17-20
|
artikel
|
| 2 |
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance
|
Nagara, Majdi
|
|
2018
|
61 |
1 |
p. 1-7
|
artikel
|
| 3 |
Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations
|
Vaqueiro, Ana Carolina
|
|
2018
|
61 |
1 |
p. 29-33
|
artikel
|
| 4 |
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation
|
Nijak, Aleksandra
|
|
2018
|
61 |
1 |
p. 8-10
|
artikel
|
| 5 |
Letter regarding the article: “A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy”
|
Berciano, José
|
|
2018
|
61 |
1 |
p. 43-44
|
artikel
|
| 6 |
Letter regarding the article “Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals (Bijlsma et al., 2009)” and the diagnosis of coexisting Mowat-Wilson syndrome in a patient with 16p11.2 deletion
|
Amor, David J.
|
|
2018
|
61 |
1 |
p. 48-49
|
artikel
|
| 7 |
Massively parallel sequencing on human cleavage-stage embryos to detect chromosomal abnormality
|
Zhou, Zhi
|
|
2018
|
61 |
1 |
p. 34-42
|
artikel
|
| 8 |
Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective
|
Estévez, Raúl
|
|
2018
|
61 |
1 |
p. 50-60
|
artikel
|
| 9 |
Multiple SLC26A2 mutations occurring in a three-generational family
|
Barreda-Bonis, Ana Coral
|
|
2018
|
61 |
1 |
p. 24-28
|
artikel
|
| 10 |
New ocular finding in Baraitser-Winter syndrome (BWS)
|
Rall, Natalie
|
|
2018
|
61 |
1 |
p. 21-23
|
artikel
|
| 11 |
Response to “In silico prediction is insufficient to assess pathogenicity of mtDNA variants”
|
Bacalhau, Mafalda
|
|
2018
|
61 |
1 |
p. 46-47
|
artikel
|
| 12 |
Response to the letter to the editor by Berciano J & García A
|
Miura, Shiroh
|
|
2018
|
61 |
1 |
p. 45
|
artikel
|
| 13 |
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation
|
Lapinski, Philip E.
|
|
2018
|
61 |
1 |
p. 11-16
|
artikel
|
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