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                             23 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment Powers, Natalie R.
2013
93 1 p. 19-28
10 p.
artikel
2 Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia Boukhris, Amir
2013
93 1 p. 118-123
6 p.
artikel
3 Coding Variants at Hexa-allelic Amino Acid 13 of HLA-DRB1 Explain Independent SNP Associations with Follicular Lymphoma Risk Foo, Jia Nee
2013
93 1 p. 167-172
6 p.
artikel
4 De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability Gregor, Anne
2013
93 1 p. 124-131
8 p.
artikel
5 Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Association” Principle Guo, Yu
2013
93 1 p. 78-89
12 p.
artikel
6 Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy Arndt, Anne-Karin
2013
93 1 p. 67-77
11 p.
artikel
7 Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome Aoki, Yoko
2013
93 1 p. 173-180
8 p.
artikel
8 General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies Lee, Seunggeun
2013
93 1 p. 42-53
12 p.
artikel
9 Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations Ko, Wen-Ya
2013
93 1 p. 54-66
13 p.
artikel
10 Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations Ko, Wen-Ya
2013
93 1 p. 191-
1 p.
artikel
11 Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism Gamsiz, Ece D.
2013
93 1 p. 103-109
7 p.
artikel
12 Long Runs of Homozygosity Are Enriched for Deleterious Variation Szpiech, Zachary A.
2013
93 1 p. 90-102
13 p.
artikel
13 Mobile DNA: Finding Treasure in Junk Batzer, Mark A.
2013
93 1 p. 5-
1 p.
artikel
14 Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan Carss, Keren J.
2013
93 1 p. 29-41
13 p.
artikel
15 Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89 Santos-Cortez, Regie Lyn P.
2013
93 1 p. 132-140
9 p.
artikel
16 Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy Ravenscroft, Gianina
2013
93 1 p. 6-18
13 p.
artikel
17 Mutations in PIK3R1 Cause SHORT Syndrome Dyment, David A.
2013
93 1 p. 158-166
9 p.
artikel
18 Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy Roosing, Susanne
2013
93 1 p. 110-117
8 p.
artikel
19 PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy Thauvin-Robinet, Christel
2013
93 1 p. 141-149
9 p.
artikel
20 Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability Bögershausen, Nina
2013
93 1 p. 181-190
10 p.
artikel
21 SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling Chudasama, Kishan Kumar
2013
93 1 p. 150-157
8 p.
artikel
22 This Month in Genetics Garber, Kathryn B.
2013
93 1 p. 3-4
2 p.
artikel
23 This Month in The Journal Ratzel, Sarah
2013
93 1 p. 1-2
2 p.
artikel
                             23 gevonden resultaten
 
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