| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An APOA5 3′ UTR Variant Associated with Plasma Triglycerides Triggers APOA5 Downregulation by Creating a Functional miR-485-5p Binding Site
|
Caussy, Cyrielle
|
|
2014
|
94 |
1 |
p. 129-134
6 p.
|
artikel
|
| 2 |
Annotating DNA Variants Is the Next Major Goal for Human Genetics
|
Cutting, Garry R.
|
|
2014
|
94 |
1 |
p. 5-10
6 p.
|
artikel
|
| 3 |
A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects
|
Favaro, Francine P.
|
|
2014
|
94 |
1 |
p. 120-128
9 p.
|
artikel
|
| 4 |
Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development
|
Peyrard-Janvid, Myriam
|
|
2014
|
94 |
1 |
p. 23-32
10 p.
|
artikel
|
| 5 |
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
|
Dusi, Sabrina
|
|
2014
|
94 |
1 |
p. 11-22
12 p.
|
artikel
|
| 6 |
Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis
|
Mayes, Maureen D.
|
|
2014
|
94 |
1 |
p. 47-61
15 p.
|
artikel
|
| 7 |
Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome
|
de Leeuw, Nicole
|
|
2014
|
94 |
1 |
p. 153-154
2 p.
|
artikel
|
| 8 |
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
|
Tuz, Karina
|
|
2014
|
94 |
1 |
p. 62-72
11 p.
|
artikel
|
| 9 |
Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans
|
Shaheen, Ranad
|
|
2014
|
94 |
1 |
p. 73-79
7 p.
|
artikel
|
| 10 |
Mutations in CSPP1 Lead to Classical Joubert Syndrome
|
Akizu, Naiara
|
|
2014
|
94 |
1 |
p. 80-86
7 p.
|
artikel
|
| 11 |
Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella
|
Ben Khelifa, Mariem
|
|
2014
|
94 |
1 |
p. 95-104
10 p.
|
artikel
|
| 12 |
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
|
Baple, Emma L.
|
|
2014
|
94 |
1 |
p. 87-94
8 p.
|
artikel
|
| 13 |
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
|
Yamamoto, Guilherme L.
|
|
2014
|
94 |
1 |
p. 113-119
7 p.
|
artikel
|
| 14 |
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
|
Hoover-Fong, Julie
|
|
2014
|
94 |
1 |
p. 105-112
8 p.
|
artikel
|
| 15 |
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease
|
Basmanav, F. Buket
|
|
2014
|
94 |
1 |
p. 135-143
9 p.
|
artikel
|
| 16 |
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86
|
Rehman, Atteeq U.
|
|
2014
|
94 |
1 |
p. 144-152
9 p.
|
artikel
|
| 17 |
Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data
|
He, Zongxiao
|
|
2014
|
94 |
1 |
p. 33-46
14 p.
|
artikel
|
| 18 |
Reponse to de Leeuw and Houge
|
Arndt, Anne-Karin
|
|
2014
|
94 |
1 |
p. 154-155
2 p.
|
artikel
|
| 19 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2014
|
94 |
1 |
p. 3-4
2 p.
|
artikel
|
| 20 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2014
|
94 |
1 |
p. 1-2
2 p.
|
artikel
|
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