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Author/Creator Sullivan, Jennifer A.

2. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

Authors:
Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U...
Journal:
Neurology
Issue:
Volume 4:Number 4(2018)
Page Start:
Record Type:
Journal Article
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3. Autism and developmental disability caused by KCNQ3 gain‐of‐function variants. Issue 2 (26th June 2019)

Authors:
Sands, Tristan T.; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E.; Sadleir, Lynette G.; Arrington, Daniel K.; Schönewolf‐Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E.; Mefford, Heather C.; Stong, Nicholas; Heinzen, Erin L.; ...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 2(2019)
Page Start:
181
Record Type:
Journal Article
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4. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Issue 8 (18th May 2021)

Authors:
Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs‐Hoeijmakers, Janneke; Boon, Elles M. J.; van Hagen, Johanna M.; Zwijnenburg, Petra; Weiss, Marjan M.; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G.; Kotzot...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2384
Record Type:
Journal Article
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5. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Issue 10 (30th July 2020)

Authors:
Cope, Heidi; Spillmann, Rebecca; Rosenfeld, Jill A.; Brokamp, Elly; Signer, Rebecca; Schoch, Kelly; Kelley, Emily G.; Sullivan, Jennifer A.; Macnamara, Ellen; Lincoln, Sharyn; Golden‐Grant, Katie; Orengo, James P.; Clark, Gary; Burrage, Lindsay C.; Posey, Jennifer E.; Punetha, Jaya; Robertson, Am...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 10(2020)
Page Start:
n/a
Record Type:
Journal Article
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