| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
|
Boycott, Kym M.
|
|
2015
|
97 |
6 |
p. 886-893
8 p.
|
artikel
|
| 2 |
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
|
Logan, Clare V.
|
|
2015
|
97 |
6 |
p. 878-885
8 p.
|
artikel
|
| 3 |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
|
Burrage, Lindsay C.
|
|
2015
|
97 |
6 |
p. 904-913
10 p.
|
artikel
|
| 4 |
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
|
Schmidt, Wolfgang M.
|
|
2015
|
97 |
6 |
p. 855-861
7 p.
|
artikel
|
| 5 |
Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture
|
Stuart, Philip E.
|
|
2015
|
97 |
6 |
p. 816-836
21 p.
|
artikel
|
| 6 |
Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms
|
Baurecht, Hansjörg
|
|
2015
|
97 |
6 |
p. 933-
1 p.
|
artikel
|
| 7 |
Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
|
Guo, Tingwei
|
|
2015
|
97 |
6 |
p. 869-877
9 p.
|
artikel
|
| 8 |
Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates
|
Palamara, Pier Francesco
|
|
2015
|
97 |
6 |
p. 775-789
15 p.
|
artikel
|
| 9 |
Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol
|
Roman, Tamara S.
|
|
2015
|
97 |
6 |
p. 801-815
15 p.
|
artikel
|
| 10 |
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
|
Isrie, Mala
|
|
2015
|
97 |
6 |
p. 790-800
11 p.
|
artikel
|
| 11 |
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
|
Niihori, Tetsuya
|
|
2015
|
97 |
6 |
p. 848-854
7 p.
|
artikel
|
| 12 |
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia
|
Gray, Mary J.
|
|
2015
|
97 |
6 |
p. 837-847
11 p.
|
artikel
|
| 13 |
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans
|
Shamseldin, Hanan
|
|
2015
|
97 |
6 |
p. 862-868
7 p.
|
artikel
|
| 14 |
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
|
Park, Julien H.
|
|
2015
|
97 |
6 |
p. 894-903
10 p.
|
artikel
|
| 15 |
Somatic Activating PIK3CA Mutations Cause Venous Malformation
|
Limaye, Nisha
|
|
2015
|
97 |
6 |
p. 914-921
8 p.
|
artikel
|
| 16 |
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
|
O’Rawe, Jason A.
|
|
2015
|
97 |
6 |
p. 922-932
11 p.
|
artikel
|
| 17 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2015
|
97 |
6 |
p. 773-774
2 p.
|
artikel
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2015
|
97 |
6 |
p. 771-772
2 p.
|
artikel
|
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