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Author/Creator Shoubridge, Cheryl

11. Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. Issue 3 (25th February 2015)

Authors:
Marques, Isabel; Sá, Maria João; Soares, Gabriela; Mota, Maria do Céu; Pinheiro, Carla; Aguiar, Lisa; Amado, Marta; Soares, Christina; Calado, Angelina; Dias, Patrícia; Sousa, Ana Berta; Fortuna, Ana Maria; Santos, Rosário; Howell, Katherine B.; Ryan, Monique M.; Leventer, Richard J; Sachdev, Ran...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 3(2015:May)
Page Start:
203
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

12. X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease. Issue 1 (7th November 2017)

Authors:
Coman, David; Fullston, Tom; Shoubridge, Cheryl; Leventer, Richard; Wong, Flora; Nazaretian, Simon; Simpson, Ian; Gecz, Josef; McGillivray, George
Journal:
Child neurology open
Issue:
Volume 4:Issue 1/2/3/4(2017)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗