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Author/Creator Kilner, David

2. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Issue 3 (12th January 2013)

Authors:
Gordon, Christopher T; Vuillot, Alice; Marlin, Sandrine; Gerkes, Erica; Henderson, Alex; AlKindy, Adila; Holder-Espinasse, Muriel; Park, Sarah S; Omarjee, Asma; Sanchis-Borja, Mateo; Bdira, Eya Ben; Oufadem, Myriam; Sikkema-Raddatz, Birgit; Stewart, Alison; Palmer, Rodger; McGowan, Ruth; Petit, F...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 3(2013)
Page Start:
174
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Issue 4 (22nd July 2019)

Authors:
Karolak, Justyna A.; Szafranski, Przemyslaw; Kilner, David; Patel, Chirag; Scurry, Bonnie; Kinning, Esther; Chandler, Kate; Jhangiani, Shalini N.; Coban Akdemir, Zeynep H.; Lupski, James R.; Popek, Edwina; Stankiewicz, Paweł
Journal:
Clinical genetics
Issue:
Volume 96:Issue 4(2019)
Page Start:
366
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗