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                             21 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 ABCB6 Mutations Cause Ocular Coloboma Wang, Lejing
 2012
 90 1 p. 40-48
9 p.
 artikel
2 A Century beyond the Fly Room Nelson, David L.
 2012
 90 1 p. 5-6
2 p.
 artikel
3 A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Caputo, Viviana
 2012
 90 1 p. 161-169
9 p.
 artikel
4 COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke Jeanne, Marion
 2012
 90 1 p. 91-101
11 p.
 artikel
5 Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome Lederer, Damien
 2012
 90 1 p. 119-124
6 p.
 artikel
6 De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly Yoneda, Yuriko
 2012
 90 1 p. 86-90
5 p.
 artikel
7 Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus Mitchell, Karen
 2012
 90 1 p. 69-75
7 p.
 artikel
8 Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy Zhang, Zhenlin
 2012
 90 1 p. 125-132
8 p.
 artikel
9 Five Years of GWAS Discovery Visscher, Peter M.
 2012
 90 1 p. 7-24
18 p.
 artikel
10 Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 Nitschke, Yvonne
 2012
 90 1 p. 25-39
15 p.
 artikel
11 Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis Weraarpachai, Woranontee
 2012
 90 1 p. 142-151
10 p.
 artikel
12 Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement Estrada-Cuzcano, Alejandro
 2012
 90 1 p. 102-109
8 p.
 artikel
13 Mutations in EZH2 Cause Weaver Syndrome Gibson, William T.
 2012
 90 1 p. 110-118
9 p.
 artikel
14 Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome Kalay, Ersan
 2012
 90 1 p. 76-85
10 p.
 artikel
15 Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin Huppke, Peter
 2012
 90 1 p. 61-68
8 p.
 artikel
16 PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome Heron, Sarah E.
 2012
 90 1 p. 152-160
9 p.
 artikel
17 Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Vaags, Andrea K.
 2012
 90 1 p. 133-141
9 p.
 artikel
18 Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity Boyden, Eric D.
 2012
 90 1 p. 170-
1 p.
 artikel
19 This Month in Genetics Garber, Kathryn B.
 2012
 90 1 p. 3-4
2 p.
 artikel
20 This Month in The Journal Cullinan, Sara B.
 2012
 90 1 p. 1-2
2 p.
 artikel
21 Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1 Basel-Vanagaite, Lina
 2012
 90 1 p. 49-60
12 p.
 artikel
                             21 gevonden resultaten
 
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