| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1
|
Kharbanda, Mira
|
|
2017
|
60 |
5 |
p. 257-260
4 p.
|
artikel
|
| 2 |
Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report
|
Waxler, Jessica L.
|
|
2017
|
60 |
5 |
p. 250-256
7 p.
|
artikel
|
| 3 |
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1
|
Lauritsen, Kathrine F.
|
|
2017
|
60 |
5 |
p. 275-278
4 p.
|
artikel
|
| 4 |
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
|
Saletti, Veronica
|
|
2017
|
60 |
5 |
p. 261-264
4 p.
|
artikel
|
| 5 |
Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation
|
Mumtaz, Sara
|
|
2017
|
60 |
5 |
p. 268-274
7 p.
|
artikel
|
| 6 |
HERC1 mutations in idiopathic intellectual disability
|
Utine, G. Eda
|
|
2017
|
60 |
5 |
p. 279-283
5 p.
|
artikel
|
| 7 |
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy
|
Lakhani, Shenela
|
|
2017
|
60 |
5 |
p. 245-249
5 p.
|
artikel
|
| 8 |
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation
|
Kharbanda, Mira
|
|
2017
|
60 |
5 |
p. 233-238
6 p.
|
artikel
|
| 9 |
Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome
|
Cherkaoui Jaouad, Imane
|
|
2017
|
60 |
5 |
p. 239-244
6 p.
|
artikel
|
| 10 |
Sibling recurrence of total anomalous pulmonary venous drainage
|
McDermott, J.H.
|
|
2017
|
60 |
5 |
p. 265-267
3 p.
|
artikel
|
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