| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17
|
Sendur, Suleyman Nahit
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 2 |
A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly
|
Khan, Feroz
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 3 |
Are we ready for genome editing in human embryos for clinical purposes?
|
Harper, Joyce C.
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 4 |
Coexistence of schwannomatosis and glioblastoma in two families
|
Deiller, Caroline
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 5 |
Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA
|
Kaur, Parneet
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 6 |
Controlled ovarian hyperstimulation (COH) parameters associated with euploidy rates in donor oocytes
|
McCulloh, David H.
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 7 |
Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis
|
Sohn, Young Bae
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 9 |
Endocervical trophoblast for interrogating the fetal genome and assessing pregnancy health at five weeks
|
Kadam, Leena
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 10 |
Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma
|
Schieffer, Kathleen M.
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 11 |
From phenotyping to genotyping - bioinformatics for the busy clinician
|
Reches, A.
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 12 |
Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum
|
Demeulenaere, Sofie
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 13 |
Ongoing issues with the management of children with Constitutional Mismatch Repair Deficiency syndrome
|
Farah, Roula A.
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 14 |
Riluzole effectively treats psychotic symptoms and improves cognition in 22q11.2 deletion syndrome: A clinical case
|
Vingerhoets, Claudia
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 15 |
The demise of preimplantation genetic testing for aneuploidy (PGT-A) in Hungary and its effect on patient care
|
Varga, Karolina
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 16 |
Theory and practice of preimplantation genetic screening (PGS)
|
Schmutzler, Andreas G.
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 17 |
Update on the use of exome sequencing in the diagnosis of fetal abnormalities
|
Ferretti, Lauren
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 18 |
Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform
|
Treff, Nathan R.
|
|
2019
|
62 |
8 |
p.
|
artikel
|
| 19 |
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report
|
Uwineza, Annette
|
|
2019
|
62 |
8 |
p.
|
artikel
|
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