| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant
|
Hamanaka, Kohei
|
|
|
141 |
2 |
p. 283-293
|
artikel
|
| 2 |
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome
|
Cinque, Luigia
|
|
|
141 |
2 |
p. 217-227
|
artikel
|
| 3 |
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
|
Kehrer-Sawatzki, Hildegard
|
|
|
141 |
2 |
p. 177-191
|
artikel
|
| 4 |
Fine human genetic map based on UK10K data set
|
Hao, Ziqian
|
|
|
141 |
2 |
p. 273-281
|
artikel
|
| 5 |
Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA
|
Dominguez, Catherine E.
|
|
|
141 |
2 |
p. 239-256
|
artikel
|
| 6 |
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans
|
Topaloglu, A. Kemal
|
|
|
141 |
2 |
p. 295-304
|
artikel
|
| 7 |
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant
|
Maddirevula, Sateesh
|
|
|
141 |
2 |
p. 209-215
|
artikel
|
| 8 |
SNP characteristics and validation success in genome wide association studies
|
Gorlova, Olga Y.
|
|
|
141 |
2 |
p. 229-238
|
artikel
|
| 9 |
The potential application of organoids in breast cancer research and treatment
|
Ebrahimi, Nasim
|
|
|
141 |
2 |
p. 193-208
|
artikel
|
| 10 |
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
|
Kreienkamp, Hans-Jürgen
|
|
|
141 |
2 |
p. 257-272
|
artikel
|
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