| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex
|
Bąbol-Pokora, Katarzyna
|
|
|
64 |
10 |
p.
|
artikel
|
| 2 |
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency
|
Lundquist, Alberte A.
|
|
|
64 |
10 |
p.
|
artikel
|
| 3 |
ATP7B variant spectrum in a French pediatric Wilson disease cohort
|
Couchonnal, Eduardo
|
|
|
64 |
10 |
p.
|
artikel
|
| 4 |
Cancer predisposition and germline CTNNA1 variants
|
Lobo, Silvana
|
|
|
64 |
10 |
p.
|
artikel
|
| 5 |
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study
|
Roux-Levy, Pierre-Henri
|
|
|
64 |
10 |
p.
|
artikel
|
| 6 |
Considerations for radiotherapy in Bloom Syndrome: A case series
|
Schoenaker, M.H.D.
|
|
|
64 |
10 |
p.
|
artikel
|
| 7 |
DNA variant classification–reconsidering “allele rarity” and “phenotype” criteria in ACMG/AMP guidelines
|
Davieson, Connor D.
|
|
|
64 |
10 |
p.
|
artikel
|
| 8 |
Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2
|
Bonilla-Fornés, Samuel
|
|
|
64 |
10 |
p.
|
artikel
|
| 9 |
Editorial Board
|
|
|
|
64 |
10 |
p.
|
artikel
|
| 10 |
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants
|
Lee, Seungbok
|
|
|
64 |
10 |
p.
|
artikel
|
| 11 |
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
|
Guan, Jing
|
|
|
64 |
10 |
p.
|
artikel
|
| 12 |
Further delineation of PIGB-related early infantile epileptic encephalopathy
|
Schiavoni, Silvia
|
|
|
64 |
10 |
p.
|
artikel
|
| 13 |
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease
|
Khuller, Katharina
|
|
|
64 |
10 |
p.
|
artikel
|
| 14 |
Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease
|
Estève, Clothilde
|
|
|
64 |
10 |
p.
|
artikel
|
| 15 |
Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome
|
Takemori, Satoshi
|
|
|
64 |
10 |
p.
|
artikel
|
Tijdschrift beschrijving