| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts
|
Raffield, Laura M.
|
|
|
106 |
1 |
p. 112-120
|
artikel
|
| 2 |
A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits
|
Dahl, Andy
|
|
|
106 |
1 |
p. 71-91
|
artikel
|
| 3 |
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders
|
Szot, Justin O.
|
|
|
106 |
1 |
p. 129-136
|
artikel
|
| 4 |
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
|
Gusic, Mirjana
|
|
|
106 |
1 |
p. 102-111
|
artikel
|
| 5 |
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
|
Zhao, Yingjie
|
|
|
106 |
1 |
p. 26-40
|
artikel
|
| 6 |
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities
|
Miyake, Noriko
|
|
|
106 |
1 |
p. 13-25
|
artikel
|
| 7 |
Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2
|
Hernandez Cordero, Ana I.
|
|
|
106 |
1 |
p. 138
|
artikel
|
| 8 |
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
|
Hughes, Joel J.
|
|
|
106 |
1 |
p. 121-128
|
artikel
|
| 9 |
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism
|
Messina, Andrea
|
|
|
106 |
1 |
p. 58-70
|
artikel
|
| 10 |
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
|
Alston, Charlotte L.
|
|
|
106 |
1 |
p. 92-101
|
artikel
|
| 11 |
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility
|
Schilit, Samantha L.P.
|
|
|
106 |
1 |
p. 41-57
|
artikel
|
| 12 |
This Month in The Journal
|
|
|
|
106 |
1 |
p. 1-2
|
artikel
|
| 13 |
UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test
|
Zhao, Zhangchen
|
|
|
106 |
1 |
p. 3-12
|
artikel
|
| 14 |
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
|
Carapito, Raphael
|
|
|
106 |
1 |
p. 137
|
artikel
|
Tijdschrift beschrijving