| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A family with an atypical presentation of TBX3-related disorder
|
Osman, Khaled
|
|
|
73 |
C |
p.
|
artikel
|
| 2 |
Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED)
|
Watanabe, Daisuke
|
|
|
73 |
C |
p.
|
artikel
|
| 3 |
Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe
|
Quinn, Shauna
|
|
|
73 |
C |
p.
|
artikel
|
| 4 |
CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus
|
Chen, Lin
|
|
|
73 |
C |
p.
|
artikel
|
| 5 |
Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria
|
Chen, Jun
|
|
|
73 |
C |
p.
|
artikel
|
| 6 |
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss
|
Laurent, Sacha
|
|
|
73 |
C |
p.
|
artikel
|
| 7 |
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort
|
Vecchio, Davide
|
|
|
73 |
C |
p.
|
artikel
|
| 8 |
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation
|
Planté-Bordeneuve, Pauline
|
|
|
73 |
C |
p.
|
artikel
|
| 9 |
Phenotypic variability in a family with an inherited KAT6A frameshift variant
|
Ringsted, Sidsel Bjerg
|
|
|
73 |
C |
p.
|
artikel
|
| 10 |
Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature
|
Chatelain, Camille
|
|
|
73 |
C |
p.
|
artikel
|
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