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Author/Creator Fannemel, Madeleine

1. Clinical and genetic characteristics of late-onset Huntington's disease. (April 2019)

Authors:
Bachoud-Lévi, Anne-Catherine; Bentivoglio, Anna-Rita; Biunno, Ida; Bonelli, Raphael M.; Bronzova, Juliana; Burgunder, Jean-Marc; Dunnett, Stephen B.; Ferreira, Joaquim J.; Frich, Jan; Giuliano, Joe; Handley, Olivia J.; Heiberg, Arvid; Illarioshkin, Sergey; Illmann, Torsten; Klempir, Jiri; Landweh...
Journal:
Parkinsonism & related disorders
Issue:
Volume 61(2019)
Page Start:
101
Record Type:
Journal Article
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3. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. Issue 7 (26th March 2014)

Authors:
Johansson, Stefan; Berland, Siren; Gradek, Gyri Aasland; Bongers, Ernie; de Leeuw, Nicole; Pfundt, Rolph; Fannemel, Madeleine; Rødningen, Olaug; Brendehaug, Atle; Haukanes, Bjørn Ivar; Hovland, Randi; Helland, Gunnar; Houge, Gunnar
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1622
Record Type:
Journal Article
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5. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. (8th March 2016)

Authors:
Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H.; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, An...
Journal:
Neurology
Issue:
Volume 86:Number 10(2016)
Page Start:
Record Type:
Journal Article
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6. The expanding clinical phenotype of germline ABL1‐associated congenital heart defects and skeletal malformations syndrome. Issue 10 (19th July 2020)

Authors:
Chen, Chun‐An; Crutcher, Emeline; Gill, Harinder; Nelson, Tanya N.; Robak, Laurie A.; Jongmans, Marjolijn C. J.; Pfundt, Rolph; Prasad, Chitra; Berard, Roberta A.; Fannemel, Madeleine; Frengen, Eirik; Misceo, Doriana; Ramsey, Keri; Yang, Yaping; Schaaf, Christian P.; Wang, Xia
Other Names:
investigator.; investigator.
Journal:
Human mutation
Issue:
Volume 41:Issue 10(2020)
Page Start:
1738
Record Type:
Journal Article
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