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 |