| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability
|
Pacault, Mathilde
|
|
|
62 |
12 |
p.
|
article
|
| 2 |
Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening
|
Hens, Kristien
|
|
|
62 |
12 |
p.
|
article
|
| 3 |
Bone dysplasias in 1.6 million births in Argentina
|
Duarte, Santiago Pablo
|
|
|
62 |
12 |
p.
|
article
|
| 4 |
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia
|
Shetty, Aakash
|
|
|
62 |
12 |
p.
|
article
|
| 5 |
Char Syndrome a novel mutation and new insights: A clinical report
|
Massaad, E.
|
|
|
62 |
12 |
p.
|
article
|
| 6 |
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience
|
Ciaccio, Claudia
|
|
|
62 |
12 |
p.
|
article
|
| 7 |
Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes
|
Rai, Archana
|
|
|
62 |
12 |
p.
|
article
|
| 8 |
Editorial Board
|
|
|
|
62 |
12 |
p.
|
article
|
| 9 |
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility
|
Sezer, Abdullah
|
|
|
62 |
12 |
p.
|
article
|
| 10 |
LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss
|
Al-Amri, Ahmed H.
|
|
|
62 |
12 |
p.
|
article
|
| 11 |
Molecular analysis of 19 Spanish patients with mixed porphyrias
|
Borrero Corte, María José
|
|
|
62 |
12 |
p.
|
article
|
| 12 |
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V
|
Retrouvey, Jean-Marc
|
|
|
62 |
12 |
p.
|
article
|
| 13 |
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
|
Bhoj, Elizabeth J.
|
|
|
62 |
12 |
p.
|
article
|
| 14 |
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders
|
Mastrangelo, Mario
|
|
|
62 |
12 |
p.
|
article
|
| 15 |
PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome
|
Abdin, D.
|
|
|
62 |
12 |
p.
|
article
|
| 16 |
Rare missense TUBGCP5 gene variant in a patient with primary microcephaly
|
Maver, Aleš
|
|
|
62 |
12 |
p.
|
article
|
| 17 |
TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy
|
Miura, Shiroh
|
|
|
62 |
12 |
p.
|
article
|
Journal description