| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Answer to Thiffault and Bernard regarding “Expert opinion and caution are imperative for interpretation of next generation sequencing data”
|
Khalifa, Mohamed
|
|
2016
|
59 |
10 |
p. 517-518
2 p.
|
artikel
|
| 2 |
Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene
|
Dardour, Leila
|
|
2016
|
59 |
10 |
p. 499-501
3 p.
|
artikel
|
| 3 |
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1
|
Popp, Bernt
|
|
2016
|
59 |
10 |
p. 549-553
5 p.
|
artikel
|
| 4 |
Esophageal atresia with tracheoesophageal fistula in a patient with 7q35–36.3 deletion including SHH gene
|
Busa, Tiffany
|
|
2016
|
59 |
10 |
p. 546-548
3 p.
|
artikel
|
| 5 |
Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity
|
Lambert, Sophie
|
|
2016
|
59 |
10 |
p. 522-525
4 p.
|
artikel
|
| 6 |
Expert opinion and caution are imperative for interpretation of next generation sequencing data
|
Thiffault, Isabelle
|
|
2016
|
59 |
10 |
p. 519-521
3 p.
|
artikel
|
| 7 |
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China
|
Jiang, Hong
|
|
2016
|
59 |
10 |
p. 526-531
6 p.
|
artikel
|
| 8 |
NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition?
|
Scholz, Caroline
|
|
2016
|
59 |
10 |
p. 493-498
6 p.
|
artikel
|
| 9 |
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
|
Shimojima, Keiko
|
|
2016
|
59 |
10 |
p. 502-506
5 p.
|
artikel
|
| 10 |
17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report
|
Henry, Rohan K.
|
|
2016
|
59 |
10 |
p. 512-516
5 p.
|
artikel
|
| 11 |
Recent advance in the molecular genetics of Wilson disease and hereditary hemochromatosis
|
Lv, Tingxia
|
|
2016
|
59 |
10 |
p. 532-539
8 p.
|
artikel
|
| 12 |
Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene
|
Ratbi, Ilham
|
|
2016
|
59 |
10 |
p. 507-511
5 p.
|
artikel
|
| 13 |
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion
|
Varma, Hemant
|
|
2016
|
59 |
10 |
p. 540-545
6 p.
|
artikel
|
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