| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A CpG Mutational Hotspot in a ONECUT Binding Site Accounts for the Prevalent Variant of Hemophilia B Leyden
|
Funnell, Alister P.W.
|
|
2013
|
92 |
3 |
p. 460-467
8 p.
|
artikel
|
| 2 |
ACTN1 Mutations Cause Congenital Macrothrombocytopenia
|
Kunishima, Shinji
|
|
2013
|
92 |
3 |
p. 431-438
8 p.
|
artikel
|
| 3 |
ADAMTS7 Cleavage and Vascular Smooth Muscle Cell Migration Is Affected by a Coronary-Artery-Disease-Associated Variant
|
Pu, Xiangyuan
|
|
2013
|
92 |
3 |
p. 366-374
9 p.
|
artikel
|
| 4 |
Age-Dependent Association between Pulmonary Tuberculosis and Common TOX Variants in the 8q12–13 Linkage Region
|
Grant, Audrey V.
|
|
2013
|
92 |
3 |
p. 407-414
8 p.
|
artikel
|
| 5 |
An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree
|
Mendez, Fernando L.
|
|
2013
|
92 |
3 |
p. 454-459
6 p.
|
artikel
|
| 6 |
2012 ASHG Awards and Addresses
|
|
|
2013
|
92 |
3 |
p. 317-318
2 p.
|
artikel
|
| 7 |
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
|
Walne, Amanda J.
|
|
2013
|
92 |
3 |
p. 448-453
6 p.
|
artikel
|
| 8 |
2012 Curt Stern Award Address 1
|
Shendure, Jay
|
|
2013
|
92 |
3 |
p. 340-344
5 p.
|
artikel
|
| 9 |
Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes
|
Delio, Maria
|
|
2013
|
92 |
3 |
p. 439-447
9 p.
|
artikel
|
| 10 |
Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease
|
Soong, Bing-Wen
|
|
2013
|
92 |
3 |
p. 422-430
9 p.
|
artikel
|
| 11 |
2012 Introduction to the Curt Stern Award: Jay Shendure 1
|
Eichler, Evan E.
|
|
2013
|
92 |
3 |
p. 338-339
2 p.
|
artikel
|
| 12 |
Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
|
Beck, Jon
|
|
2013
|
92 |
3 |
p. 345-353
9 p.
|
artikel
|
| 13 |
Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs
|
Chen, Xiaoli
|
|
2013
|
92 |
3 |
p. 375-386
12 p.
|
artikel
|
| 14 |
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
|
Stevens, Elizabeth
|
|
2013
|
92 |
3 |
p. 354-365
12 p.
|
artikel
|
| 15 |
Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism
|
Grønskov, Karen
|
|
2013
|
92 |
3 |
p. 415-421
7 p.
|
artikel
|
| 16 |
Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia
|
Zahrani, Fatema
|
|
2013
|
92 |
3 |
p. 387-391
5 p.
|
artikel
|
| 17 |
Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
|
Radmanesh, Farid
|
|
2013
|
92 |
3 |
p. 468-474
7 p.
|
artikel
|
| 18 |
Mutations in MED12 Cause X-Linked Ohdo Syndrome
|
Vulto-van Silfhout, Anneke T.
|
|
2013
|
92 |
3 |
p. 401-406
6 p.
|
artikel
|
| 19 |
2012 Presidential Address: The Scientist as a Citizen of the World 1
|
King, Mary-Claire
|
|
2013
|
92 |
3 |
p. 319-322
4 p.
|
artikel
|
| 20 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
92 |
3 |
p. 315-316
2 p.
|
artikel
|
| 21 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
92 |
3 |
p. 313-314
2 p.
|
artikel
|
| 22 |
Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia
|
Akizu, Naiara
|
|
2013
|
92 |
3 |
p. 392-400
9 p.
|
artikel
|
| 23 |
2012 William Allan Award: Adventures in Cytogenetics 1
|
Francke, Uta
|
|
2013
|
92 |
3 |
p. 325-337
13 p.
|
artikel
|
| 24 |
2012 William Allan Award Introduction: Uta Francke 1
|
Özçelik, Tayfun
|
|
2013
|
92 |
3 |
p. 323-324
2 p.
|
artikel
|
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