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                             14 gevonden resultaten
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
                             14 gevonden resultaten
 
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