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Is Part Of Clinical genetics. Volume 89:Issue 1(2016)

1. Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype. Issue 1 (25th February 2015)

Authors:
Parenti, I.; Gervasini, C.; Pozojevic, J.; Graul‐Neumann, L.; Azzollini, J.; Braunholz, D.; Watrin, E.; Wendt, K.S.; Cereda, A.; Cittaro, D.; Gillessen‐Kaesbach, G.; Lazarevic, D.; Mariani, M.; Russo, S.; Werner, R.; Krawitz, P.; Larizza, L.; Selicorni, A.; Kaiser, F.J.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 1(2016)
Page Start:
74
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations. Issue 1 (14th April 2015)

Authors:
Miyake, N.; Tsurusaki, Y.; Koshimizu, E.; Okamoto, N.; Kosho, T.; Brown, N.J.; Tan, T.Y.; Yap, P.J.J.; Suzumura, H.; Tanaka, T.; Nagai, T.; Nakashima, M.; Saitsu, H.; Niikawa, N.; Matsumoto, N.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 1(2016)
Page Start:
115
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Issue 1 (29th April 2015)

Authors:
Rudnik‐Schöneborn, S.; Tölle, D.; Senderek, J.; Eggermann, K.; Elbracht, M.; Kornak, U.; von der Hagen, M.; Kirschner, J.; Leube, B.; Müller‐Felber, W.; Schara, U.; von Au, K.; Wieczorek, D.; Bußmann, C.; Zerres, K.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 1(2016)
Page Start:
34
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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