| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin
|
McGregor-Schuerman, Magda
|
|
|
63 |
6 |
p.
|
article
|
| 2 |
A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity
|
Nabil, Amira
|
|
|
63 |
6 |
p.
|
article
|
| 3 |
A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2
|
Udomchaiprasertkul, Wandee
|
|
|
63 |
6 |
p.
|
article
|
| 4 |
A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction
|
Ekinci, Faruk
|
|
|
63 |
6 |
p.
|
article
|
| 5 |
BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome
|
Allegri, Lorenzo
|
|
|
63 |
6 |
p.
|
article
|
| 6 |
BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case
|
Vietri, Maria Teresa
|
|
|
63 |
6 |
p.
|
article
|
| 7 |
Clues and challenges in the diagnosis of intermittent maple syrup urine disease
|
Pode-Shakked, Naomi
|
|
|
63 |
6 |
p.
|
article
|
| 8 |
Congenital hyperinsulinism due to mutations in HNF1A
|
Yau, Daphne
|
|
|
63 |
6 |
p.
|
article
|
| 9 |
Editorial Board
|
|
|
|
63 |
6 |
p.
|
article
|
| 10 |
Expansion of the phenotype of biallelic variants in TRIT1
|
Forde, Karina M.
|
|
|
63 |
6 |
p.
|
article
|
| 11 |
Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing
|
Li, Jun
|
|
|
63 |
6 |
p.
|
article
|
| 12 |
Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child
|
Gurlek Gokcebay, Dilek
|
|
|
63 |
6 |
p.
|
article
|
| 13 |
Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci
|
Bhoj, Elizabeth J.
|
|
|
63 |
6 |
p.
|
article
|
| 14 |
Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel
|
Kim, Tae Hyeong
|
|
|
63 |
6 |
p.
|
article
|
| 15 |
Mosaicism in ASXL3-related syndrome: Description of five patients from three families
|
Schirwani, Schaida
|
|
|
63 |
6 |
p.
|
article
|
| 16 |
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment
|
Cabet, Sara
|
|
|
63 |
6 |
p.
|
article
|
| 17 |
1p31.1 microdeletion including only NEGR1 gene in two patients
|
Tassano, Elisa
|
|
|
63 |
6 |
p.
|
article
|
| 18 |
Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene
|
Tvina, Alina
|
|
|
63 |
6 |
p.
|
article
|
| 19 |
Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1
|
Shotelersuk, Varote
|
|
|
63 |
6 |
p.
|
article
|
| 20 |
Two cases of 16q12.1q21 deletions and refinement of the critical region
|
Apuzzo, Diletta
|
|
|
63 |
6 |
p.
|
article
|
| 21 |
What not to expect when you're expecting: Unusual cases of placental mosaicism detected on non-invasive prenatal screening
|
Pritchard, Amanda Barone
|
|
|
63 |
6 |
p.
|
article
|
Journal description