| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature
|
Gudmundsson, Sanna
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 2 |
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome
|
Kanthi, Anil
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 3 |
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome
|
Pei, Yang
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 4 |
Editorial Board
|
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 5 |
Familial Mediterranean fever (FMF) phenotype in patients homozygous to the MEFV M694V mutation
|
Grossman, Chagai
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 6 |
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder
|
Sakaguchi, Asami
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 7 |
Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum
|
Akgün Doğan, Özlem
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 8 |
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
|
Angelini, Chloé
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 9 |
Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests
|
Sato, Taisuke
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 10 |
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly
|
Pillai, Nishitha R.
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 11 |
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature
|
Delanne, J.
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 12 |
Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome
|
Arsov, Todor
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 13 |
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations
|
Niceta, Marcello
|
|
2019
|
62 |
6 |
p.
|
artikel
|
| 14 |
TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome
|
Janin, Alexandre
|
|
2019
|
62 |
6 |
p.
|
artikel
|
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