| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ASHG Denounces Attempts to Link Genetics and Racial Supremacy
|
|
|
2018
|
103 |
5 |
p. 636
|
artikel
|
| 2 |
ASHG Perspectives: A New Voice for ASHG
|
Nelson, David L.
|
|
2018
|
103 |
5 |
p. 635
|
artikel
|
| 3 |
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
|
Danhauser, Katharina
|
|
2018
|
103 |
5 |
p. 817-825
|
artikel
|
| 4 |
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
|
Morimoto, Marie
|
|
2018
|
103 |
5 |
p. 794-807
|
artikel
|
| 5 |
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
|
Ghosh, Shereen G.
|
|
2018
|
103 |
5 |
p. 826
|
artikel
|
| 6 |
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects
|
Bonnefoy, Serge
|
|
2018
|
103 |
5 |
p. 727-739
|
artikel
|
| 7 |
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
|
Romano, Maria-Teresa
|
|
2018
|
103 |
5 |
p. 777-785
|
artikel
|
| 8 |
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles
|
Nguyen, Ngoc Minh Phuong
|
|
2018
|
103 |
5 |
p. 740-751
|
artikel
|
| 9 |
Deciphering the Emerging Complexities of Molecular Mechanisms at GWAS Loci
|
Cannon, Maren E.
|
|
2018
|
103 |
5 |
p. 637-653
|
artikel
|
| 10 |
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
|
Helbig, Katherine L.
|
|
2018
|
103 |
5 |
p. 666-678
|
artikel
|
| 11 |
FUT2 Variants Confer Susceptibility to Familial Otitis Media
|
Santos-Cortez, Regie Lyn P.
|
|
2018
|
103 |
5 |
p. 679-690
|
artikel
|
| 12 |
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders
|
Ligthart, Symen
|
|
2018
|
103 |
5 |
p. 691-706
|
artikel
|
| 13 |
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
|
Schlingmann, Karl P.
|
|
2018
|
103 |
5 |
p. 808-816
|
artikel
|
| 14 |
Leveraging DNA-Methylation Quantitative-Trait Loci to Characterize the Relationship between Methylomic Variation, Gene Expression, and Complex Traits
|
Hannon, Eilis
|
|
2018
|
103 |
5 |
p. 654-665
|
artikel
|
| 15 |
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
|
Turnpenny, Peter D.
|
|
2018
|
103 |
5 |
p. 786-793
|
artikel
|
| 16 |
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
|
Schanze, Ina
|
|
2018
|
103 |
5 |
p. 752-768
|
artikel
|
| 17 |
The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels
|
Algady, Walid
|
|
2018
|
103 |
5 |
p. 769-776
|
artikel
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2018
|
103 |
5 |
p. 633-634
|
artikel
|
| 19 |
Understanding the Hidden Complexity of Latin American Population Isolates
|
Mooney, Jazlyn A.
|
|
2018
|
103 |
5 |
p. 707-726
|
artikel
|
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