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TBL1XR1 Families Forum
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NameEmail Number of AttendeesChild's NameChild's AgeWhere do you live? Desired specialists during visit? Will yo il u be willing to introduce yourself/family during roundtable introduction? De. B.
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Alexandra Malá Alex.mala@email.cz c1337 a>g cyc446Kristian 13Czech Republic neurology, metabolic controlyes
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Tabitha Wallacegrac3.224@gmail.com4Charlee Smith4ArizonaNeurology, cardio, endoYes ;V u. ;Ee
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Laura Bertolotti Colombilbertolotti125@gmail.com
Gene TBLX1R1 c.1466 T>A (p.Val489Asp) sindrome di Pierpont
Matteo 12Milano italyok the ones programmed by youYes
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Alessandra Concetta Preziosoalessandraconcetta21@gmail.com
c.1336 T>C in eterozigosi nel gene TBLX1R1 che a livello proteico determina cambio aminoacidico P Try446HIS (RS1553808301) sindrome di Pierpont
Francesca 4
Sermoneta Latina Roma italy
ok the ones programmed by you more Gastroenterologist, nutritionist and dietician
Yes
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Sarah Hargadonflylittlebirdfoundation@gmail.com8Wren7Minnesotaneurology, epilepsy Yes
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Bobbie DubeBobbiedube@gmail.com2Mikayla10Canada Nagy and developmentalYes
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Aysegül Altinbasaysegul.altinbas@altinbas.edu.trTBL1XR1, c.1183T>C p.(Tyr395His)Erdem7Turkey/Germanyneurologist (eeg expert), psychiatrist (specialised ADHD), rehabilitation (speech) yes
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Jamie Hug<hugfamily18@yahoo.com>Preston11USneurology
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Amy McClaine amylynnamylynn29@yahoo.com4Kalise4Kansas Cityneuro, GI/motility
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Bianca Velderbzerio1@gmail.com>4SerafinaUS
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Morgan FoorMorgan Foor <braseemorgan@yahoo.com>2USNA
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Geraldine GreenGeraldine Green <gersmarbles@googlemail.com>Saoirse Irelandneurology, speech, adhd
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Katherine Kitchenkathryrk02@gmail.com2Jamie US
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Debra DellaCameradebra.dellacamera@comcast.netTBK1XR1, c.1337A>G, p.(Tyr446Cys) 3Sophia27US,Dr. Nagey and ?Yes
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Clyde Bryantclydegbryant151@hotmail.com3Makenna20Ogallala, NE. USAjust coming to hang out! Yes
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