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                             15 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A novel germline Pregnane X Receptor (PXR) variant predisposing to Hodgkin lymphoma in two siblings Khodzhaev, Khusan

72 C p.
artikel
2 ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation Arioka, Makoto

72 C p.
artikel
3 Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case Grosen, Anne

72 C p.
artikel
4 De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model Nakato, Daisuke

72 C p.
artikel
5 Economic evaluation of extended panel analysis in cancer patients with historical NHS diagnostic germline genetic testing – A modeling study based on real-world data Xi, Qin

72 C p.
artikel
6 Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes Zdolšek Draksler, Tanja

72 C p.
artikel
7 Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal Barcia, Giulia

72 C p.
artikel
8 Feasibility study of the psychosocial effects of an online mindfulness intervention in children and adolescents with achondroplasia and their parents Casellas, Àngel

72 C p.
artikel
9 Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene Martín Gómez, María Adoración

72 C p.
artikel
10 Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR Graversen, Lise

72 C p.
artikel
11 ITGB4-Related pyloric atresia without epidermolysis in two siblings Aliyeva, Lamiya

72 C p.
artikel
12 Lessons learned from the RE(ACT) conference on medical devices for rare diseases Jonker, Anneliene H.

72 C p.
artikel
13 Novel CTR9 germline pathogenic splice site variant in siblings with Wilms tumor from Tanzania Iman, Ali

72 C p.
artikel
14 Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force Chen, Faye H.

72 C p.
artikel
15 Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3 Cho, Tae-Joon

72 C p.
artikel
                             15 gevonden resultaten
 
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