| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Answer to Letter to the Editor regarding the article “Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion”
|
Pascolini, Giulia
|
|
|
63 |
10 |
p.
|
artikel
|
| 2 |
Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome
|
Maya, Idit
|
|
|
63 |
10 |
p.
|
artikel
|
| 3 |
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature
|
Lengyel, Anna
|
|
|
63 |
10 |
p.
|
artikel
|
| 4 |
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
|
Vera, Gabriella
|
|
|
63 |
10 |
p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
|
63 |
10 |
p.
|
artikel
|
| 6 |
Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome
|
Li, Dongxiao
|
|
|
63 |
10 |
p.
|
artikel
|
| 7 |
Lowe syndrome – Old and new evidence of secondary mitochondrial dysfunction
|
Dumic, Katja K.
|
|
|
63 |
10 |
p.
|
artikel
|
| 8 |
Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency
|
Pons, Linda
|
|
|
63 |
10 |
p.
|
artikel
|
| 9 |
Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome
|
Walsh, Sonja
|
|
|
63 |
10 |
p.
|
artikel
|
| 10 |
Outcome associated with EPCAM founder mutation c.499dup in Qatar
|
Hassan, Kamal
|
|
|
63 |
10 |
p.
|
artikel
|
| 11 |
Pure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers
|
Sato, Anna
|
|
|
63 |
10 |
p.
|
artikel
|
| 12 |
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion
|
Carroll, Renee
|
|
|
63 |
10 |
p.
|
artikel
|
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