| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance
|
Penchev, Valentin
|
|
2017
|
60 |
6 |
p. 321-325
5 p.
|
artikel
|
| 2 |
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy
|
Jackson, Christopher B.
|
|
2017
|
60 |
6 |
p. 345-351
7 p.
|
artikel
|
| 3 |
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation
|
Valenzuela, Irene
|
|
2017
|
60 |
6 |
p. 303-307
5 p.
|
artikel
|
| 4 |
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder
|
Dai, Zunyan
|
|
2017
|
60 |
6 |
p. 312-316
5 p.
|
artikel
|
| 5 |
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy
|
Zehavi, Yoav
|
|
2017
|
60 |
6 |
p. 317-320
4 p.
|
artikel
|
| 6 |
Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?
|
Segal, Perri
|
|
2017
|
60 |
6 |
p. 340-344
5 p.
|
artikel
|
| 7 |
Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death
|
Ramond, Francis
|
|
2017
|
60 |
6 |
p. 299-302
4 p.
|
artikel
|
| 8 |
Gene expression profiling of bone marrow mesenchymal stem cells from Osteogenesis Imperfecta patients during osteoblast differentiation
|
Kaneto, Carla Martins
|
|
2017
|
60 |
6 |
p. 326-334
9 p.
|
artikel
|
| 9 |
In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency
|
Oliver, Conor
|
|
2017
|
60 |
6 |
p. 289-298
10 p.
|
artikel
|
| 10 |
Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene
|
Ramzan, Khushnooda
|
|
2017
|
60 |
6 |
p. 308-311
4 p.
|
artikel
|
| 11 |
Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility
|
Zheng, Junjie
|
|
2017
|
60 |
6 |
p. 335-339
5 p.
|
artikel
|
| 12 |
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature
|
Aggarwal, Anjali
|
|
2017
|
60 |
6 |
p. 285-288
4 p.
|
artikel
|
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