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Author/Creator Isrie, Mala

3. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Issue 9 (6th May 2016)

Authors:
Roosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hülya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R; McKanna, Tru...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 9(2016)
Page Start:
608
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Phenotypes and genotypes in individuals with SMC1A variants. Issue 8 (26th May 2017)

Authors:
Huisman, Sylvia; Mulder, Paul A.; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne‐Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier‐Daire, Valerie; Deardorff, Matthew A.; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; FitzPatrick, David; Gervasini, Cristina; Gilles...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 8(2017)
Page Start:
2108
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗