| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a
|
Ye, Jiangchuan
|
|
2016
|
99 |
6 |
p. 1281-1291
11 p.
|
artikel
|
| 2 |
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
|
Assoum, Mirna
|
|
2016
|
99 |
6 |
p. 1368-1376
9 p.
|
artikel
|
| 3 |
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
|
Delle Vedove, Andrea
|
|
2016
|
99 |
6 |
p. 1406-1408
3 p.
|
artikel
|
| 4 |
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
|
George, Aman
|
|
2016
|
99 |
6 |
p. 1388-1394
7 p.
|
artikel
|
| 5 |
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome
|
Zhu, Fuxi
|
|
2016
|
99 |
6 |
p. 1405-
1 p.
|
artikel
|
| 6 |
Chad Genetic Diversity Reveals an African History Marked by Multiple Holocene Eurasian Migrations
|
Haber, Marc
|
|
2016
|
99 |
6 |
p. 1316-1324
9 p.
|
artikel
|
| 7 |
Colocalization of GWAS and eQTL Signals Detects Target Genes
|
Hormozdiari, Farhad
|
|
2016
|
99 |
6 |
p. 1245-1260
16 p.
|
artikel
|
| 8 |
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A
|
Han, Chanshuai
|
|
2016
|
99 |
6 |
p. 1359-1367
9 p.
|
artikel
|
| 9 |
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
|
Zech, Michael
|
|
2016
|
99 |
6 |
p. 1377-1387
11 p.
|
artikel
|
| 10 |
HLA-C Level Is Regulated by a Polymorphic Oct1 Binding Site in the HLA-C Promoter Region
|
Vince, Nicolas
|
|
2016
|
99 |
6 |
p. 1353-1358
6 p.
|
artikel
|
| 11 |
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains
|
Swanger, Sharon A.
|
|
2016
|
99 |
6 |
p. 1261-1280
20 p.
|
artikel
|
| 12 |
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
|
Heimer, Gali
|
|
2016
|
99 |
6 |
p. 1229-1244
16 p.
|
artikel
|
| 13 |
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility
|
He, Yinghong
|
|
2016
|
99 |
6 |
p. 1395-1404
10 p.
|
artikel
|
| 14 |
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
|
Cheong, Sek-Shir
|
|
2016
|
99 |
6 |
p. 1338-1352
15 p.
|
artikel
|
| 15 |
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy
|
Darin, Niklas
|
|
2016
|
99 |
6 |
p. 1325-1337
13 p.
|
artikel
|
| 16 |
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
|
Arno, Gavin
|
|
2016
|
99 |
6 |
p. 1305-1315
11 p.
|
artikel
|
| 17 |
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
|
Ü. Basmanav, F. Buket
|
|
2016
|
99 |
6 |
p. 1292-1304
13 p.
|
artikel
|
| 18 |
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
|
Thompson, Kyle
|
|
2016
|
99 |
6 |
p. 1405-
1 p.
|
artikel
|
| 19 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2016
|
99 |
6 |
p. 1227-1228
2 p.
|
artikel
|
| 20 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2016
|
99 |
6 |
p. 1225-1226
2 p.
|
artikel
|
Tijdschrift beschrijving