| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches
|
Guidugli, Lucia
|
|
2018
|
102 |
2 |
p. 233-248
|
artikel
|
| 2 |
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy
|
Mutoh, Hiroki
|
|
2018
|
102 |
2 |
p. 321-329
|
artikel
|
| 3 |
Bible Says Israelites Didn't Exterminate Sidonians
|
Giem, Paul
|
|
2018
|
102 |
2 |
p. 330
|
artikel
|
| 4 |
Evolutionary Rewiring of Human Regulatory Networks by Waves of Genome Expansion
|
Marnetto, Davide
|
|
2018
|
102 |
2 |
p. 207-218
|
artikel
|
| 5 |
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
|
Martinelli, Simone
|
|
2018
|
102 |
2 |
p. 309-320
|
artikel
|
| 6 |
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation
|
Drecourt, Anthony
|
|
2018
|
102 |
2 |
p. 266-277
|
artikel
|
| 7 |
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans
|
Yang, Chi-Fan
|
|
2018
|
102 |
2 |
p. 219-232
|
artikel
|
| 8 |
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome
|
Yin, Jiani
|
|
2018
|
102 |
2 |
p. 296-308
|
artikel
|
| 9 |
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
|
Uddin, Mohammed
|
|
2018
|
102 |
2 |
p. 278-295
|
artikel
|
| 10 |
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization
|
Jourdy, Yohann
|
|
2018
|
102 |
2 |
p. 199-206
|
artikel
|
| 11 |
Response to Giem
|
Haber, Marc
|
|
2018
|
102 |
2 |
p. 331
|
artikel
|
| 12 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2018
|
102 |
2 |
p. 197-198
|
artikel
|
| 13 |
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome
|
Bozal-Basterra, Laura
|
|
2018
|
102 |
2 |
p. 249-265
|
artikel
|
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