| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family
|
Xie, Lijian
|
|
2019
|
62 |
7 |
p.
|
article
|
| 2 |
An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome
|
Martin, Anne
|
|
2019
|
62 |
7 |
p.
|
article
|
| 3 |
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F
|
Pál, Endre
|
|
2019
|
62 |
7 |
p.
|
article
|
| 4 |
Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India
|
Kumar Sahoo, Pabitra
|
|
2019
|
62 |
7 |
p.
|
article
|
| 5 |
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations
|
Eggermann, Thomas
|
|
2019
|
62 |
7 |
p.
|
article
|
| 6 |
Editorial Board
|
|
|
2019
|
62 |
7 |
p.
|
article
|
| 7 |
Exome-based search for recurrent disease-causing alleles in Russian population
|
Yanus, Grigoriy A.
|
|
2019
|
62 |
7 |
p.
|
article
|
| 8 |
Homozygous deletion of the entire AAAS gene in a triple A syndrome patient
|
Koehler, Katrin
|
|
2019
|
62 |
7 |
p.
|
article
|
| 9 |
Ophthalmo-acromelic syndrome in an infant
|
Ürel-Demir, Gizem
|
|
2019
|
62 |
7 |
p.
|
article
|
| 10 |
Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations
|
Bunyan, David J.
|
|
2019
|
62 |
7 |
p.
|
article
|
| 11 |
Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C
|
Colson, Cindy
|
|
2019
|
62 |
7 |
p.
|
article
|
Journal description