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                             20 results found
no title author magazine year volume issue page(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.
article
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.
article
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.
article
4 Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness George, Aman
2016
99 6 p. 1388-1394
7 p.
article
5 Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome Zhu, Fuxi
2016
99 6 p. 1405-
1 p.
article
6 Chad Genetic Diversity Reveals an African History Marked by Multiple Holocene Eurasian Migrations Haber, Marc
2016
99 6 p. 1316-1324
9 p.
article
7 Colocalization of GWAS and eQTL Signals Detects Target Genes Hormozdiari, Farhad
2016
99 6 p. 1245-1260
16 p.
article
8 Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A Han, Chanshuai
2016
99 6 p. 1359-1367
9 p.
article
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.
article
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.
article
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.
article
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.
article
13 Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility He, Yinghong
2016
99 6 p. 1395-1404
10 p.
article
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.
article
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.
article
16 Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa Arno, Gavin
2016
99 6 p. 1305-1315
11 p.
article
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.
article
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.
article
19 This Month in Genetics Garber, Kathryn B.
2016
99 6 p. 1227-1228
2 p.
article
20 This Month in The Journal Ratzel, Sarah
2016
99 6 p. 1225-1226
2 p.
article
                             20 results found
 
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