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Author/Creator Reuter, Miriam S.

2. A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome. Issue 9 (11th July 2020)

Authors:
Curtis, Meredith; Baribeau, Danielle; Walker, Susan; Carter, Melissa; Costain, Gregory; Lamoureux, Sylvia; Liston, Eriskay; Marshall, Christian R.; Reuter, Miriam S.; Snell, Meaghan; Summers, Jane; Vorstman, Jacob; Jobling, Rebekah K.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 9(2020)
Page Start:
2145
Record Type:
Journal Article
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3. Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. (30th July 2021)

Authors:
Reuter, Miriam S.; Chaturvedi, Rajiv R.; Jobling, Rebekah K.; Pellecchia, Giovanna; Hamdan, Omar; Sung, Wilson W.L.; Nalpathamkalam, Thomas; Attaluri, Pratyusha; Silversides, Candice K.; Wald, Rachel M.; Marshall, Christian R.; Williams, Simon G.; Keavney, Bernard D.; Thiruvahindrapuram, Bhooma; ...
Journal:
Circulation
Issue:
Volume 14:Number 4(2021)
Page Start:
e003410
Record Type:
Journal Article
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5. HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. Issue 12 (23rd September 2014)

Authors:
Reuter, Miriam S.; Sass, Jörn Oliver; Leis, Thomas; Köhler, Julia; Mayr, Johannes A.; Feichtinger, René G.; Rauh, Manfred; Schanze, Ina; Bähr, Luzy; Trollmann, Regina; Uebe, Steffen; Ekici, Arif B.; Reis, André
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 12(2014.)
Page Start:
3162
Record Type:
Journal Article
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6. NDST1 missense mutations in autosomal recessive intellectual disability. Issue 11 (14th August 2014)

Authors:
Reuter, Miriam S.; Musante, Luciana; Hu, Hao; Diederich, Stefan; Sticht, Heinrich; Ekici, Arif B.; Uebe, Steffen; Wienker, Thomas F.; Bartsch, Oliver; Zechner, Ulrich; Oppitz, Cornelia; Keleman, Krystyna; Jamra, Rami Abou; Najmabadi, Hossein; Schweiger, Susann; Reis, André; Kahrizi, Kimia
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 11(2014.)
Page Start:
2753
Record Type:
Journal Article
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