| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Access to social services for undiagnosed rare disease patients in France: A pilot study
|
Pélissier, Aurore
|
|
|
65 |
5 |
p.
|
article
|
| 2 |
Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?
|
Ryu, Jae Hui
|
|
|
65 |
5 |
p.
|
article
|
| 3 |
Congenital diaphragmatic hernia and early lethality in PIGL-related disorder
|
Winter-Paquette, Laura M.
|
|
|
65 |
5 |
p.
|
article
|
| 4 |
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations
|
Schuart, Claudia
|
|
|
65 |
5 |
p.
|
article
|
| 5 |
Editorial Board
|
|
|
|
65 |
5 |
p.
|
article
|
| 6 |
Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome
|
Alves da Silva, Joana
|
|
|
65 |
5 |
p.
|
article
|
| 7 |
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis
|
Olde Keizer, Richelle A.C.M.
|
|
|
65 |
5 |
p.
|
article
|
| 8 |
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant
|
De Bernardi, Margherita Lucia
|
|
|
65 |
5 |
p.
|
article
|
| 9 |
Mosaicism in Hartsfield syndrome
|
Harris, Elizabeth
|
|
|
65 |
5 |
p.
|
article
|
| 10 |
Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report
|
Sudhakar, Murugan
|
|
|
65 |
5 |
p.
|
article
|
| 11 |
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome
|
Burgevin, Mélissa
|
|
|
65 |
5 |
p.
|
article
|
| 12 |
Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD
|
Sommer, Anna K.
|
|
|
65 |
5 |
p.
|
article
|
| 13 |
Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review
|
Pavlovica, Kristine
|
|
|
65 |
5 |
p.
|
article
|
| 14 |
SRD5A3-CDG: Twins with an intragenic tandem duplication
|
Rieger, Melissa
|
|
|
65 |
5 |
p.
|
article
|
| 15 |
The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis
|
Topa, Alexandra
|
|
|
65 |
5 |
p.
|
article
|
Journal description