| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank
|
Bi, Wenjian
|
|
|
107 |
2 |
p. 222-233
|
artikel
|
| 2 |
A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling
|
Rodriguez, Benjamin A.T.
|
|
|
107 |
2 |
p. 211-221
|
artikel
|
| 3 |
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility
|
Liu, Chunyu
|
|
|
107 |
2 |
p. 330-341
|
artikel
|
| 4 |
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
|
Husain, Ralf A.
|
|
|
107 |
2 |
p. 364-373
|
artikel
|
| 5 |
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
|
Wyrwoll, Margot J.
|
|
|
107 |
2 |
p. 342-351
|
artikel
|
| 6 |
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US
|
Kim, Hye In
|
|
|
107 |
2 |
p. 251-264
|
artikel
|
| 7 |
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
|
Manole, Andreea
|
|
|
107 |
2 |
p. 311-324
|
artikel
|
| 8 |
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
|
Guillen Sacoto, Maria J.
|
|
|
107 |
2 |
p. 352-363
|
artikel
|
| 9 |
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data
|
Easteal, Simon
|
|
|
107 |
2 |
p. 175-182
|
artikel
|
| 10 |
Fostering Responsible Research on Ancient DNA
|
Wagner, Jennifer K.
|
|
|
107 |
2 |
p. 183-195
|
artikel
|
| 11 |
Genetic Consequences of the Transatlantic Slave Trade in the Americas
|
Micheletti, Steven J.
|
|
|
107 |
2 |
p. 265-277
|
artikel
|
| 12 |
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
|
Zhang, Ling
|
|
|
107 |
2 |
p. 375
|
artikel
|
| 13 |
Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy
|
Sinha, Divya
|
|
|
107 |
2 |
p. 278-292
|
artikel
|
| 14 |
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates
|
Tuke, Marcus
|
|
|
107 |
2 |
p. 325-329
|
artikel
|
| 15 |
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
|
Van Damme, Tim
|
|
|
107 |
2 |
p. 374
|
artikel
|
| 16 |
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
|
Chong, Jessica X.
|
|
|
107 |
2 |
p. 293-310
|
artikel
|
| 17 |
Regional Variation of Splicing QTLs in Human Brain
|
Zhang, Yida
|
|
|
107 |
2 |
p. 196-210
|
artikel
|
| 18 |
The Genetic Landscape and Epidemiology of Phenylketonuria
|
Hillert, Alicia
|
|
|
107 |
2 |
p. 234-250
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
107 |
2 |
p. 173-174
|
artikel
|
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