| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly
|
Basel-Salmon, Lina
|
|
|
64 |
2 |
p.
|
artikel
|
| 2 |
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome
|
Nardello, Rosaria
|
|
|
64 |
2 |
p.
|
artikel
|
| 3 |
Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities
|
Satoh, Chisei
|
|
|
64 |
2 |
p.
|
artikel
|
| 4 |
Clinical and genetic evaluation of Danish patients with pycnodysostosis
|
Doherty, Mia Aa
|
|
|
64 |
2 |
p.
|
artikel
|
| 5 |
Corrigendum to UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report [European Journal of Medical Genetics, (2020) Nov; 63(11): 104021]
|
Zhang, Guiping
|
|
|
64 |
2 |
p.
|
artikel
|
| 6 |
De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy
|
Keller, Natalie
|
|
|
64 |
2 |
p.
|
artikel
|
| 7 |
Editorial Board
|
|
|
|
64 |
2 |
p.
|
artikel
|
| 8 |
Familial Beckwith-Wiedemann syndrome: Prenatal manifestation and a possible expansion of the phenotype
|
Brabbing-Goldstein, Dana
|
|
|
64 |
2 |
p.
|
artikel
|
| 9 |
First evidence of involvement of TBC1D25 in causing human male infertility
|
Nawaz, Shoaib
|
|
|
64 |
2 |
p.
|
artikel
|
| 10 |
Homozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A
|
Schirwani, Schaida
|
|
|
64 |
2 |
p.
|
artikel
|
| 11 |
Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings
|
Lugli, Licia
|
|
|
64 |
2 |
p.
|
artikel
|
| 12 |
Mandibuloacral dysplasia type A in five tunisian patients
|
R, Sakka
|
|
|
64 |
2 |
p.
|
artikel
|
| 13 |
Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia
|
Trabelsi, Nawel
|
|
|
64 |
2 |
p.
|
artikel
|
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