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                             24 results found
no title author magazine year volume issue page(s) type
1 Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells Forsberg, Lars A.
 2012
 90 2 p. 217-228
12 p.
 article
2 DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation Jones, Melanie A.
 2012
 90 2 p. 363-368
6 p.
 article
3 De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome Simpson, Michael A.
 2012
 90 2 p. 290-294
5 p.
 article
4 DNA Methylation Signatures in Development and Aging of the Human Prefrontal Cortex Numata, Shusuke
 2012
 90 2 p. 260-272
13 p.
 article
5 GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness Peachey, Neal S.
 2012
 90 2 p. 331-339
9 p.
 article
6 Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly Lines, Matthew A.
 2012
 90 2 p. 369-377
9 p.
 article
7 Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome Mayr, Johannes A.
 2012
 90 2 p. 314-320
7 p.
 article
8 Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians Dulik, Matthew C.
 2012
 90 2 p. 229-246
18 p.
 article
9 Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss Baumann, Matthias
 2012
 90 2 p. 201-216
16 p.
 article
10 Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome Campeau, Philippe M.
 2012
 90 2 p. 282-289
8 p.
 article
11 Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy Ostergaard, Pia
 2012
 90 2 p. 356-362
7 p.
 article
12 Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin Huppke, Peter
 2012
 90 2 p. 378-
1 p.
 article
13 Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome Hood, Rebecca L.
 2012
 90 2 p. 308-313
6 p.
 article
14 Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease Goriely, Anne
 2012
 90 2 p. 175-200
26 p.
 article
15 RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans Depienne, Christel
 2012
 90 2 p. 301-307
7 p.
 article
16 Resequencing Candidate Genes Implicates Rare Variants in Asthma Susceptibility Torgerson, Dara G.
 2012
 90 2 p. 273-281
9 p.
 article
17 RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome Blaydon, Diana C.
 2012
 90 2 p. 340-346
7 p.
 article
18 Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia Metspalu, Mait
 2012
 90 2 p. 378-379
2 p.
 article
19 The Arabian Cradle: Mitochondrial Relicts of the First Steps along the Southern Route out of Africa Fernandes, Verónica
 2012
 90 2 p. 347-355
9 p.
 article
20 The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria Johnston, Jennifer J.
 2012
 90 2 p. 295-300
6 p.
 article
21 This Month in Genetics Garber, Kathryn B.
 2012
 90 2 p. 173-174
2 p.
 article
22 This Month in The Journal Cullinan, Sara B.
 2012
 90 2 p. 171-172
2 p.
 article
23 Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness Audo, Isabelle
 2012
 90 2 p. 321-330
10 p.
 article
24 X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development Webb, Tom R.
 2012
 90 2 p. 247-259
13 p.
 article
                             24 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands