| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Albert de la Chapelle (1933–2020)
|
Toland, Amanda Ewart
|
|
|
108 |
2 |
p. 214-216
|
artikel
|
| 2 |
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model
|
Patrizi, Clarissa
|
|
|
108 |
2 |
p. 295-308
|
artikel
|
| 3 |
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility
|
Liu, Chunyu
|
|
|
108 |
2 |
p. 309-323
|
artikel
|
| 4 |
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
|
Weng, Patricia L.
|
|
|
108 |
2 |
p. 357-367
|
artikel
|
| 5 |
Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies
|
Stern, Aaron J.
|
|
|
108 |
2 |
p. 219-239
|
artikel
|
| 6 |
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis
|
Galatà, Gabriella
|
|
|
108 |
2 |
p. 284-294
|
artikel
|
| 7 |
HiC-ACT: improved detection of chromatin interactions from Hi-C data via aggregated Cauchy test
|
Lagler, Taylor M.
|
|
|
108 |
2 |
p. 257-268
|
artikel
|
| 8 |
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans
|
Fan, Suixing
|
|
|
108 |
2 |
p. 324-336
|
artikel
|
| 9 |
Multi-trait transcriptome-wide association studies with probabilistic Mendelian randomization
|
Liu, Lu
|
|
|
108 |
2 |
p. 240-256
|
artikel
|
| 10 |
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
|
den Hoed, Joery
|
|
|
108 |
2 |
p. 346-356
|
artikel
|
| 11 |
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome
|
Chen, Na
|
|
|
108 |
2 |
p. 337-345
|
artikel
|
| 12 |
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
|
Sadler, Brooke
|
|
|
108 |
2 |
p. 368
|
artikel
|
| 13 |
Recognizing those who deal with rare disease every day
|
Korf, Bruce R.
|
|
|
108 |
2 |
p. 213
|
artikel
|
| 14 |
The diagnostic odyssey: our family’s story
|
Miller, Danny
|
|
|
108 |
2 |
p. 217-218
|
artikel
|
| 15 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
108 |
2 |
p. 211-212
|
artikel
|
| 16 |
Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability
|
McArthur, Evonne
|
|
|
108 |
2 |
p. 269-283
|
artikel
|
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