| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy
|
Zhao, Xuechao
|
|
|
64 |
1 |
p.
|
article
|
| 2 |
A patient with atypical presentation of chronic hepatosteatosis harboring a novel variant in the CPT1A gene
|
Boonsimma, Ponghatai
|
|
|
64 |
1 |
p.
|
article
|
| 3 |
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype
|
Currò, Aurora
|
|
|
64 |
1 |
p.
|
article
|
| 4 |
CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia
|
Simpson, Brittany N.
|
|
|
64 |
1 |
p.
|
article
|
| 5 |
Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency
|
Naber, Myrthe
|
|
|
64 |
1 |
p.
|
article
|
| 6 |
Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype
|
Dontaine, Pauline
|
|
|
64 |
1 |
p.
|
article
|
| 7 |
Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder
|
Kaneko, Maki
|
|
|
64 |
1 |
p.
|
article
|
| 8 |
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder
|
Hetzelt, Katalin L.M.L.
|
|
|
64 |
1 |
p.
|
article
|
| 9 |
Editorial Board
|
|
|
|
64 |
1 |
p.
|
article
|
| 10 |
Expanding the spectrum of VAC14 related pediatric-onset neurological disease; striatonigral degeneration with brainstem involvement
|
Karaoğlu, Pakize
|
|
|
64 |
1 |
p.
|
article
|
| 11 |
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions
|
Yu, Kris Pui-Tak
|
|
|
64 |
1 |
p.
|
article
|
| 12 |
Genetic essentialism: The mediating role of essentialist biases on the relationship between genetic knowledge and the interpretations of genetic information
|
Dar-Nimrod, Ilan
|
|
|
64 |
1 |
p.
|
article
|
| 13 |
Growth charts in Cockayne syndrome type 1 and type 2
|
Baer, Sarah
|
|
|
64 |
1 |
p.
|
article
|
| 14 |
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome
|
Errichiello, Edoardo
|
|
|
64 |
1 |
p.
|
article
|
| 15 |
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
|
Ciaccio, Claudia
|
|
|
64 |
1 |
p.
|
article
|
| 16 |
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings
|
Mastromoro, Gioia
|
|
|
64 |
1 |
p.
|
article
|
| 17 |
Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome
|
Huynh, Minh-Tuan
|
|
|
64 |
1 |
p.
|
article
|
Journal description