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 |