| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients
|
Kisa, Pelin Teke
|
|
|
64 |
5 |
p.
|
artikel
|
| 2 |
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome
|
Santoro, Claudia
|
|
|
64 |
5 |
p.
|
artikel
|
| 3 |
A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses
|
Yang, Haihua
|
|
|
64 |
5 |
p.
|
artikel
|
| 4 |
A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review
|
Galvão de Oliveira, Manuella
|
|
|
64 |
5 |
p.
|
artikel
|
| 5 |
A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia
|
Backman, K.
|
|
|
64 |
5 |
p.
|
artikel
|
| 6 |
Autosomal dominant familial periodic fever patient with a missense variant c.215G>A (p.Cys72Tyr) in TNFRSF1A gene presenting as neutrophilia
|
Rajpal, Sweta
|
|
|
64 |
5 |
p.
|
artikel
|
| 7 |
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants
|
del Pino, Mariana
|
|
|
64 |
5 |
p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
|
64 |
5 |
p.
|
artikel
|
| 9 |
Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients
|
Nambot, S.
|
|
|
64 |
5 |
p.
|
artikel
|
| 10 |
Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders
|
Chen, Meilin
|
|
|
64 |
5 |
p.
|
artikel
|
| 11 |
PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes
|
Abreu Miss, Gabriella de M.
|
|
|
64 |
5 |
p.
|
artikel
|
| 12 |
SOX17 loss-of-function variation underlying familial congenital heart disease
|
Zhao, Lan
|
|
|
64 |
5 |
p.
|
artikel
|
| 13 |
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome
|
Garza-Mayén, G.
|
|
|
64 |
5 |
p.
|
artikel
|
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