| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome
|
Graul-Neumann, Luitgard M.
|
|
2018
|
61 |
7 |
p. 363-368
|
artikel
|
| 2 |
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
|
Peron, Angela
|
|
2018
|
61 |
7 |
p. 403-410
|
artikel
|
| 3 |
Editorial Board
|
|
|
2018
|
61 |
7 |
p. ii
|
artikel
|
| 4 |
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus
|
Aggarwal, Shagun
|
|
2018
|
61 |
7 |
p. 399-402
|
artikel
|
| 5 |
Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3
|
La Serna-Infantes, Jorge
|
|
2018
|
61 |
7 |
p. 388-392
|
artikel
|
| 6 |
Novel mutation in a family with WNT1-related osteoporosis
|
Panigrahi, Inusha
|
|
2018
|
61 |
7 |
p. 369-371
|
artikel
|
| 7 |
Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant
|
Barrie, Elizabeth S.
|
|
2018
|
61 |
7 |
p. 416-420
|
artikel
|
| 8 |
Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome
|
Unolt, Marta
|
|
2018
|
61 |
7 |
p. 411-415
|
artikel
|
| 9 |
Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene
|
Maia, Célia Márcia Fernandes
|
|
2018
|
61 |
7 |
p. 384-387
|
artikel
|
| 10 |
Split hand-foot malformation and a novel WNT10B mutation
|
Kantaputra, Piranit Nik
|
|
2018
|
61 |
7 |
p. 372-375
|
artikel
|
| 11 |
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency
|
Villafuerte, Beatriz
|
|
2018
|
61 |
7 |
p. 393-398
|
artikel
|
| 12 |
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder
|
Cosemans, Nele
|
|
2018
|
61 |
7 |
p. 376-383
|
artikel
|
Tijdschrift beschrijving