| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A complex phenotype in a family with a pathogenic SOX3 missense variant
|
Jelsig, Anne M.
|
|
2018
|
61 |
3 |
p. 168-172
|
artikel
|
| 2 |
Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant
|
Carvalho, Daniel R.
|
|
2018
|
61 |
3 |
p. 134-138
|
artikel
|
| 3 |
Desmosterolosis presenting with multiple congenital anomalies
|
Rohanizadegan, Mersedeh
|
|
2018
|
61 |
3 |
p. 152-156
|
artikel
|
| 4 |
Editorial Board
|
|
|
2018
|
61 |
3 |
p. ii
|
artikel
|
| 5 |
Genome-wide sequencing expands the phenotypic spectrum of EP300 variants
|
Costain, Gregory
|
|
2018
|
61 |
3 |
p. 125-129
|
artikel
|
| 6 |
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients
|
Freire, Bruna L.
|
|
2018
|
61 |
3 |
p. 130-133
|
artikel
|
| 7 |
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature
|
Recalcati, Maria Paola
|
|
2018
|
61 |
3 |
p. 173-180
|
artikel
|
| 8 |
Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review
|
Szczałuba, Krzysztof
|
|
2018
|
61 |
3 |
p. 157-160
|
artikel
|
| 9 |
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran
|
Kariminejad, Ariana
|
|
2018
|
61 |
3 |
p. 139-144
|
artikel
|
| 10 |
Rare copy number variants identified in prune belly syndrome
|
Boghossian, Nansi S.
|
|
2018
|
61 |
3 |
p. 145-151
|
artikel
|
| 11 |
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies
|
Córdova-Fletes, Carlos
|
|
2018
|
61 |
3 |
p. 161-167
|
artikel
|
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