| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter
|
Yamada, Hikari
|
|
|
63 |
5 |
p.
|
article
|
| 2 |
A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del
|
Dabboubi, Rym
|
|
|
63 |
5 |
p.
|
article
|
| 3 |
A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family
|
Binaafar, Sima
|
|
|
63 |
5 |
p.
|
article
|
| 4 |
Answer to Finsterer about “Multisystem presentation of a homozygous POLG2 variant”
|
Dosekova, Petra
|
|
|
63 |
5 |
p.
|
article
|
| 5 |
Clinical error rates of next generation sequencing and array comparative genomic hybridization with single thawed euploid embryo transfer
|
Friedenthal, Jenna
|
|
|
63 |
5 |
p.
|
article
|
| 6 |
Editorial Board
|
|
|
|
63 |
5 |
p.
|
article
|
| 7 |
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8
|
Hosseini Bereshneh, Ali
|
|
|
63 |
5 |
p.
|
article
|
| 8 |
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review
|
Alghamdi, Malak
|
|
|
63 |
5 |
p.
|
article
|
| 9 |
Further evidence of GABRA4 and TOP3B as autism susceptibility genes
|
Riley, Jacquelyn D.
|
|
|
63 |
5 |
p.
|
article
|
| 10 |
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing
|
Batlle-Masó, Laura
|
|
|
63 |
5 |
p.
|
article
|
| 11 |
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism
|
Pozza, Elise
|
|
|
63 |
5 |
p.
|
article
|
| 12 |
Multisystem presentation of a homozygous POLG2 variant
|
Finsterer, Josef
|
|
|
63 |
5 |
p.
|
article
|
| 13 |
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
|
Rinaldi, Berardo
|
|
|
63 |
5 |
p.
|
article
|
| 14 |
Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome
|
Chacon-Camacho, Oscar F.
|
|
|
63 |
5 |
p.
|
article
|
| 15 |
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3
|
Bizzari, Sami
|
|
|
63 |
5 |
p.
|
article
|
| 16 |
Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome
|
Smerdel, Maja Patricia
|
|
|
63 |
5 |
p.
|
article
|
| 17 |
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness
|
Lu, Xingxing
|
|
|
63 |
5 |
p.
|
article
|
Journal description