| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Genocentric Approach to Discovery of Mendelian Disorders
|
Hansen, Adam W.
|
|
|
105 |
5 |
p. 974-986
|
artikel
|
| 2 |
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
|
Mitani, Tadahiro
|
|
|
105 |
5 |
p. 1005-1015
|
artikel
|
| 3 |
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
|
Ansar, Muhammad
|
|
|
105 |
5 |
p. 907-920
|
artikel
|
| 4 |
Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population
|
Nakka, Priyanka
|
|
|
105 |
5 |
p. 921-932
|
artikel
|
| 5 |
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
|
Wallmeier, Julia
|
|
|
105 |
5 |
p. 1030-1039
|
artikel
|
| 6 |
Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent
|
Tian, Xiaowen
|
|
|
105 |
5 |
p. 883-893
|
artikel
|
| 7 |
Evolution and Impact of Subclonal Mutations in Papillary Thyroid Cancer
|
Masoodi, Tariq
|
|
|
105 |
5 |
p. 959-973
|
artikel
|
| 8 |
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
|
Aitken, Stuart
|
|
|
105 |
5 |
p. 933-946
|
artikel
|
| 9 |
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
|
Yan, Huifang
|
|
|
105 |
5 |
p. 996-1004
|
artikel
|
| 10 |
Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome
|
Alsaif, Hessa S.
|
|
|
105 |
5 |
p. 1016-1022
|
artikel
|
| 11 |
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
|
Dias, Caroline M.
|
|
|
105 |
5 |
p. 1048-1056
|
artikel
|
| 12 |
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
|
Fiordaliso, Sarah K.
|
|
|
105 |
5 |
p. 987-995
|
artikel
|
| 13 |
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
|
Boyden, Lynn M.
|
|
|
105 |
5 |
p. 1023-1029
|
artikel
|
| 14 |
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
|
Le Caignec, Cedric
|
|
|
105 |
5 |
p. 1040-1047
|
artikel
|
| 15 |
Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level
|
Liang, Jingjing
|
|
|
105 |
5 |
p. 1057-1068
|
artikel
|
| 16 |
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1
|
Snellings, Daniel A.
|
|
|
105 |
5 |
p. 894-906
|
artikel
|
| 17 |
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
|
Giannuzzi, Giuliana
|
|
|
105 |
5 |
p. 947-958
|
artikel
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
105 |
5 |
p. 881-882
|
artikel
|
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