| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease
|
Gourzi, Polyxeni
|
|
2019
|
62 |
1 |
p. 77-80
|
artikel
|
| 2 |
A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction
|
Yu, Seyoung
|
|
2019
|
62 |
1 |
p. 81-84
|
artikel
|
| 3 |
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate
|
Simsek-Kiper, Pelin Ozlem
|
|
2019
|
62 |
1 |
p. 21-26
|
artikel
|
| 4 |
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings
|
Concolino, Daniela
|
|
2019
|
62 |
1 |
p. 73-76
|
artikel
|
| 5 |
Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?
|
Pavone, Piero
|
|
2019
|
62 |
1 |
p. 47-54
|
artikel
|
| 6 |
Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders
|
Vanzo, Rena J.
|
|
2019
|
62 |
1 |
p. 15-20
|
artikel
|
| 7 |
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)
|
Li, Guoqiang
|
|
2019
|
62 |
1 |
p. 44-46
|
artikel
|
| 8 |
De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder
|
Shen, Wei
|
|
2019
|
62 |
1 |
p. 55-60
|
artikel
|
| 9 |
Editorial Board
|
|
|
2019
|
62 |
1 |
p. ii
|
artikel
|
| 10 |
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients
|
Gazdagh, Gabriella
|
|
2019
|
62 |
1 |
p. 27-34
|
artikel
|
| 11 |
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform
|
Vaeth, Signe
|
|
2019
|
62 |
1 |
p. 1-8
|
artikel
|
| 12 |
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors
|
Herriges, John C.
|
|
2019
|
62 |
1 |
p. 9-14
|
artikel
|
| 13 |
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease
|
Ruskey, Jennifer A.
|
|
2019
|
62 |
1 |
p. 65-69
|
artikel
|
| 14 |
Novel truncating PPM1D mutation in a patient with intellectual disability
|
Porrmann, Joseph
|
|
2019
|
62 |
1 |
p. 70-72
|
artikel
|
| 15 |
Phenotype variability in Hajdu-Cheney syndrome
|
Regev, Miriam
|
|
2019
|
62 |
1 |
p. 35-38
|
artikel
|
| 16 |
Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum
|
Singh, Bharti
|
|
2019
|
62 |
1 |
p. 61-64
|
artikel
|
| 17 |
Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?
|
Al-Murshedi, Fathiya
|
|
2019
|
62 |
1 |
p. 39-43
|
artikel
|
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