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Author/Creator Baranano, Kristin

1. Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. Issue 5 (2nd February 2016)

Authors:
Gund, Christian; Powis, Zöe; Alcaraz, Wendy; Desai, Sonal; Baranano, Kristin
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 5(2016)
Page Start:
1330
Record Type:
Journal Article
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2. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Issue 1 (7th October 2020)

Authors:
Crow, Yanick J; Marshall, Heather; Rice, Gillian I; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; Berger, Andrea; Blair, Edward; Blauwblomme, Thomas; Bolduc, Francois; Boddaert, Natalie; Buckard, Johannes; Burnett, Heather; Calvert, Sophie; Caumes, Roseline; Ng, Andy Cheuk...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
15
Record Type:
Journal Article
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3. Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. (28th November 2022)

Authors:
Brar, Bobby K.; Thompson, Marisa Gilstrop; Vora, Neeta L.; Gilmore, Kelly; Blakemore, Karin; Miller, Kristen A.; Giordano, Jessica; Dufke, Andreas; Wong, Beatrix; Stover, Samantha; Lianoglou, Billie; Van den Veyver, Ignatia; Dempsey, Esther; Rosner, Mara; Chong, Karen; Chitayat, David; Sparks, Te...
Journal:
Prenatal diagnosis
Issue:
Volume 42:Number 13(2022)
Page Start:
1686
Record Type:
Journal Article
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4. The association between educational attainment and SCA 3 age of onset and disease course. (May 2022)

Authors:
Iannuzzelli, Katherine; Shi, Rosa; Carter, Reece; Huynh, Rachel; Morgan, Owen; Kuo, Sheng-Han; Bang, Jee; Mills, Kelly A.; Baranano, Kristin; Zee, David S.; Moukheiber, Emile; Roda, Ricardo; Butala, Ankur; Marvel, Cherie; Joyce, Michelle; Li, Ximin; Wang, Jiangxia; Rosenthal, Liana S.
Journal:
Parkinsonism & related disorders
Issue:
Volume 98(2022)
Page Start:
99
Record Type:
Journal Article
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