| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature
|
van der Laan, Liselot
|
|
|
75 |
C |
p.
|
artikel
|
| 2 |
Comparison of bilateral tibial lengthening with circular external fixator and simultaneous deformity correction with hexapod external fixator in Achondroplasia
|
Bocchi, Maria Beatrice
|
|
|
75 |
C |
p.
|
artikel
|
| 3 |
Diagnostic delays in rare genetic disorders with neuropsychiatric manifestations: A systematic review
|
Siegel, Isaac J.
|
|
|
75 |
C |
p.
|
artikel
|
| 4 |
Early onset basal cell carcinoma: Consider Bazex-Dupré-Christol syndrome
|
Cragg, Aislinn
|
|
|
75 |
C |
p.
|
artikel
|
| 5 |
Evaluating parental satisfaction and empowerment with genetic testing in the Neonatal Intensive Care Unit (NICU)
|
Kim, Sunu
|
|
|
75 |
C |
p.
|
artikel
|
| 6 |
Familial inheritance of 14q terminal deletion syndrome and review of the literature
|
Vincent, Krista M.
|
|
|
75 |
C |
p.
|
artikel
|
| 7 |
Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM
|
Dhaenens, Britt A.E.
|
|
|
75 |
C |
p.
|
artikel
|
| 8 |
Isolated congenital vertebral anomaly and Sprengel's deformity in a W BP11 pathogenic variant
|
Shin, Bo Kyung
|
|
|
75 |
C |
p.
|
artikel
|
| 9 |
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report
|
Bonniaud, Bertille
|
|
|
75 |
C |
p.
|
artikel
|
| 10 |
Management of a case of melorheostosis deformity and pain with intramedullary nailing
|
Ruzzini, Laura
|
|
|
75 |
C |
p.
|
artikel
|
| 11 |
Paracentric inversion disrupting the SHANK2 gene
|
Huyghebaert, Jolien
|
|
|
75 |
C |
p.
|
artikel
|
| 12 |
RHOA-associated disorder can be non-mosaic
|
Nakato, Daisuke
|
|
|
75 |
C |
p.
|
artikel
|
| 13 |
Short-term efficacy of tofacitinib, a JAK inhibitor, in IFIH1-related Aicardi-Goutières syndrome
|
Hou, Ling
|
|
|
75 |
C |
p.
|
artikel
|
| 14 |
The craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review
|
Roomaney, Imaan Amina
|
|
|
75 |
C |
p.
|
artikel
|
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