| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adaptation and preliminary validation of the genetic counseling outcome scale (GCOS-24) in a Brazilian genetic counseling setting
|
Segundo-Ribeiro, Mayara
|
|
|
63 |
11 |
p.
|
artikel
|
| 2 |
Altered level of plasma exosomes in patients with Gaucher disease
|
Tatiana, Shtam
|
|
|
63 |
11 |
p.
|
artikel
|
| 3 |
A novel homozygous KY variant causing a complex neurological disorder
|
Arif, Beenish
|
|
|
63 |
11 |
p.
|
artikel
|
| 4 |
A severe case of status dystonicus caused by a de novo KMT2B missense mutation
|
Nakamura, Sadao
|
|
|
63 |
11 |
p.
|
artikel
|
| 5 |
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation
|
Suzuki, Shigeru
|
|
|
63 |
11 |
p.
|
artikel
|
| 6 |
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation
|
Hadouiri, Nawale
|
|
|
63 |
11 |
p.
|
artikel
|
| 7 |
Disclosing genetic information to family members without consent: Five Australian case studies
|
Tiller, Jane
|
|
|
63 |
11 |
p.
|
artikel
|
| 8 |
Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort
|
Sun, Shuzhen
|
|
|
63 |
11 |
p.
|
artikel
|
| 9 |
Editorial Board
|
|
|
|
63 |
11 |
p.
|
artikel
|
| 10 |
Excess of RALGAPB de novo variants in neurodevelopmental disorders
|
Shah, Abid Ali
|
|
|
63 |
11 |
p.
|
artikel
|
| 11 |
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy
|
Grudzinska Pechhacker, Monika K.
|
|
|
63 |
11 |
p.
|
artikel
|
| 12 |
Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome
|
Dery, Tania
|
|
|
63 |
11 |
p.
|
artikel
|
| 13 |
Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly
|
Aerden, Mio
|
|
|
63 |
11 |
p.
|
artikel
|
| 14 |
Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients
|
Gürbüz, Berrak Bilginer
|
|
|
63 |
11 |
p.
|
artikel
|
| 15 |
ISL1 loss-of-function variation causes familial atrial fibrillation
|
Wu, Shao-Hui
|
|
|
63 |
11 |
p.
|
artikel
|
| 16 |
Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature
|
Ziats, Catherine A.
|
|
|
63 |
11 |
p.
|
artikel
|
| 17 |
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
|
Illsinger, Sabine
|
|
|
63 |
11 |
p.
|
artikel
|
| 18 |
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders
|
Hennekam, Raoul C.M.
|
|
|
63 |
11 |
p.
|
artikel
|
| 19 |
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review
|
Mercati, Oriane
|
|
|
63 |
11 |
p.
|
artikel
|
| 20 |
Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4
|
Fedida, Ayalla
|
|
|
63 |
11 |
p.
|
artikel
|
| 21 |
Targeted re-sequencing in pediatric and perinatal stroke
|
Grossi, Alice
|
|
|
63 |
11 |
p.
|
artikel
|
| 22 |
The external phenotype of aging
|
Hennekam, Raoul C.M.
|
|
|
63 |
11 |
p.
|
artikel
|
| 23 |
TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts
|
Uchiyama, Hiroki
|
|
|
63 |
11 |
p.
|
artikel
|
| 24 |
Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature
|
Hassib, Nehal F.
|
|
|
63 |
11 |
p.
|
artikel
|
| 25 |
UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report
|
Zhang, Guiping
|
|
|
63 |
11 |
p.
|
artikel
|
| 26 |
X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant
|
Kraatari, Minna
|
|
|
63 |
11 |
p.
|
artikel
|
| 27 |
Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project
|
Lewis, Celine
|
|
|
63 |
11 |
p.
|
artikel
|
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