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                             11 results found
no title author magazine year volume issue page(s) type
1 Application of long read sequencing in rare diseases: The longer, the better? Yu, Si-Yan

66 12 p.
article
2 Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review Monda, Emanuele

66 12 p.
article
3 Clinical and molecular features of four families with CLDN10-related HELIX syndrome Qudair, Ahmad

66 12 p.
article
4 Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases Priego Zurita, Ana Luisa

66 12 p.
article
5 Early-onset diabetes in Africa: A mini-review of the current genetic profile Adadey, Samuel Mawuli

66 12 p.
article
6 Editorial Board
66 12 p.
article
7 National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark Lildballe, Dorte L.

66 12 p.
article
8 Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency Yagasaki, Hideaki

66 12 p.
article
9 Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome Suzuki, Yasuyo

66 12 p.
article
10 Resolving fetal hydrops – A rare entity Saxena, Deepti

66 12 p.
article
11 Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression Juul-Dam, Kristian L.

66 12 p.
article
                             11 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands