| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee
|
Adams, David R.
|
|
|
70 |
C |
p.
|
article
|
| 2 |
Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype
|
Suzuki, Hisato
|
|
|
70 |
C |
p.
|
article
|
| 3 |
Cancer in 22q11.2 deletion syndrome: A case report and literature review
|
Liu, Bingju
|
|
|
70 |
C |
p.
|
article
|
| 4 |
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome
|
Drissen, Meggie M.C.M.
|
|
|
70 |
C |
p.
|
article
|
| 5 |
Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review
|
Manoochehri, Jamal
|
|
|
70 |
C |
p.
|
article
|
| 6 |
Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study
|
Mengel, Eugen
|
|
|
70 |
C |
p.
|
article
|
| 7 |
Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family
|
Gregersen, Pernille A.
|
|
|
70 |
C |
p.
|
article
|
| 8 |
Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets
|
Baroncelli, Giampiero I.
|
|
|
70 |
C |
p.
|
article
|
| 9 |
The discovery of a ten-generation m.C1494T pedigree in the east of England with probable links to King Richard III
|
Logan, Ian S.
|
|
|
70 |
C |
p.
|
article
|
| 10 |
The history of the international rare diseases research consortium (IRDiRC) and its conferences
|
Pearce, David A.
|
|
|
70 |
C |
p.
|
article
|
Journal description