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Author/Creator Falsey, Alexandra M.

1. Compound heterozygous mutations in NEK8 in siblings with end‐stage renal disease with hepatic and cardiac anomalies. Issue 3 (24th December 2015)

Authors:
Rajagopalan, Ramakrishnan; Grochowski, Christopher M.; Gilbert, Melissa A.; Falsey, Alexandra M.; Coleman, Karlene; Romero, Rene; Loomes, Kathleen M.; Piccoli, David A.; Devoto, Marcella; Spinner, Nancy B.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 3(2016)
Page Start:
750
Record Type:
Journal Article
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2. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors. Issue 2 (13th October 2015)

Authors:
Izumi, Kosuke; Hayashi, Daisuke; Grochowski, Christopher M.; Kubota, Noriko; Nishi, Eriko; Arakawa, Michiko; Hiroma, Takehiko; Hatata, Tomoko; Ogiso, Yoshifumi; Nakamura, Tomohiko; Falsey, Alexandra M.; Hidaka, Eiko; Spinner, Nancy B.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 2(2016)
Page Start:
471
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome. (3rd March 2015)

Authors:
Grochowski, Christopher M.; Rajagopalan, Ramakrishnan; Falsey, Alexandra M.; Loomes, Kathleen M.; Piccoli, David A.; Krantz, Ian D.; Devoto, Marcella; Spinner, Nancy B.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 4(2015:Apr.)
Page Start:
891
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia. Issue 6 (21st April 2015)

Authors:
Tsai, Ellen A.; Grochowski, Christopher M.; Falsey, Alexandra M.; Rajagopalan, Ramakrishnan; Wendel, Danielle; Devoto, Marcella; Krantz, Ian D.; Loomes, Kathleen M.; Spinner, Nancy B.
Journal:
Human mutation
Issue:
Volume 36:Issue 6(2015:Jun.)
Page Start:
631
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗