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Author/Creator Schneider, Michael C.

2. Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. (February 2021)

Authors:
Abdelmoumen, Imane; Jimenez, Sandra; Valencia, Ignacio; Melvin, Joseph; Legido, Agustin; Diaz-Diaz, Mayela M.; Griffith, Christopher; Massingham, Lauren J.; Yelton, Melissa; Rodríguez-Hernández, Janice; Schnur, Rhonda E.; Walsh, Laurence E.; Cristancho, Ana G.; Bergqvist, Christina A.; McWalter, ...
Journal:
Journal of child neurology
Issue:
Volume 36:Number 2(2021)
Page Start:
93
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Issue 8 (9th May 2016)

Authors:
Srour, Myriam; Caron, Véronique; Pearson, Toni; Nielsen, Sarah B.; Lévesque, Sébastien; Delrue, Marie‐Ange; Becker, Troy A.; Hamdan, Fadi F.; Kibar, Zoha; Sattler, Shannon G.; Schneider, Michael C.; Bitoun, Pierre; Chassaing, Nicolas; Rosenfeld, Jill A.; Xia, Fan; Desai, Sonal; Roeder, Elizabeth;...
Journal:
Human mutation
Issue:
Volume 37:Issue 8(2016)
Page Start:
786
Record Type:
Journal Article
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5. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018)

Authors:
Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2259
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018)

Authors:
Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2259
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗