| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Fast and Simple Method for Detecting Identity-by-Descent Segments in Large-Scale Data
|
Zhou, Ying
|
|
|
106 |
4 |
p. 426-437
|
artikel
|
| 2 |
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures
|
Tan, Tiong Yang
|
|
|
106 |
4 |
p. 467-483
|
artikel
|
| 3 |
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
|
Dong, Xiaomin
|
|
|
106 |
4 |
p. 559-569
|
artikel
|
| 4 |
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
|
Nguyen, Thi Tuyet Mai
|
|
|
106 |
4 |
p. 484-495
|
artikel
|
| 5 |
Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data
|
Xu, Danqing
|
|
|
106 |
4 |
p. 513-524
|
artikel
|
| 6 |
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
|
Mao, Dongxue
|
|
|
106 |
4 |
p. 570-583
|
artikel
|
| 7 |
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
|
Mattioli, Francesca
|
|
|
106 |
4 |
p. 438-452
|
artikel
|
| 8 |
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy
|
Hamanaka, Kohei
|
|
|
106 |
4 |
p. 549-558
|
artikel
|
| 9 |
Genetic Architecture of Gene Expression in European and African Americans: An eQTL Mapping Study in GENOA
|
Shang, Lulu
|
|
|
106 |
4 |
p. 496-512
|
artikel
|
| 10 |
Genotyping Array Design and Data Quality Control in the Million Veteran Program
|
Hunter-Zinck, Haley
|
|
|
106 |
4 |
p. 535-548
|
artikel
|
| 11 |
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos
|
Girardi, Laura
|
|
|
106 |
4 |
p. 525-534
|
artikel
|
| 12 |
Rapid, Phase-free Detection of Long Identity-by-Descent Segments Enables Effective Relationship Classification
|
Seidman, Daniel N.
|
|
|
106 |
4 |
p. 453-466
|
artikel
|
| 13 |
Reproductive Choice and Research
|
|
|
|
106 |
4 |
p. 425
|
artikel
|
| 14 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
106 |
4 |
p. 423-424
|
artikel
|
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