| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Multi-omic Integrative Scheme Characterizes Tissues of Action at Loci Associated with Type 2 Diabetes
|
Torres, Jason M.
|
|
|
107 |
6 |
p. 1011-1028
|
artikel
|
| 2 |
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration
|
Polovitskaya, Maya M.
|
|
|
107 |
6 |
p. 1062-1077
|
artikel
|
| 3 |
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
|
Schneeberger, Pauline E.
|
|
|
107 |
6 |
p. 1044-1061
|
artikel
|
| 4 |
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
|
Barish, Scott
|
|
|
107 |
6 |
p. 1096-1112
|
artikel
|
| 5 |
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
|
Schneider, Ronen
|
|
|
107 |
6 |
p. 1113-1128
|
artikel
|
| 6 |
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
|
Rodger, Catherine
|
|
|
107 |
6 |
p. 1129-1148
|
artikel
|
| 7 |
Genomic Medicine Year in Review: 2020
|
Manolio, Teri A.
|
|
|
107 |
6 |
p. 1007-1010
|
artikel
|
| 8 |
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects
|
Duncan, Anna R.
|
|
|
107 |
6 |
p. 1170-1177
|
artikel
|
| 9 |
Multiplexed Functional Assessment of Genetic Variants in CARD11
|
Meitlis, Iana
|
|
|
107 |
6 |
p. 1029-1043
|
artikel
|
| 10 |
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
|
Donkervoort, Sandra
|
|
|
107 |
6 |
p. 1078-1095
|
artikel
|
| 11 |
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans
|
Alzahrani, Fatema
|
|
|
107 |
6 |
p. 1178-1185
|
artikel
|
| 12 |
Response to Hall et al.
|
Chong, Jessica X.
|
|
|
107 |
6 |
p. 1188-1189
|
artikel
|
| 13 |
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
|
Palmer, Elizabeth E.
|
|
|
107 |
6 |
p. 1157-1169
|
artikel
|
| 14 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
107 |
6 |
p. 1005-1006
|
artikel
|
| 15 |
Using the Term Amyoplasia Loosely Can Lead to Confusion
|
Hall, Judith G.
|
|
|
107 |
6 |
p. 1186-1187
|
artikel
|
| 16 |
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects
|
Seu, Katie G.
|
|
|
107 |
6 |
p. 1149-1156
|
artikel
|
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