Gabriella Horvath - British Columbia Children’s Hospital

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论文共 90 篇作者统计合作学者相似作者

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Clinical and Biochemical Footprints of Inherited Metabolic Diseases: Ia. Movement Disorders, Updated

Dakota J S J Peacock,Carlos R Ferreira,Gabriella Horvath,Georg F Hoffmann,Nenad Blau,Darius Ebrahimi-Fakhari

Molecular genetics and metabolismno. 1 (2025): 109084-109084

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Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder

Emilie T. Theberge, Kate Durbano,Diane Demailly,Sophie Huby,Aleksandra Mitina, Yue Yin,Arezoo Mohajeri,Clara van Karnebeek,Gabriella A. Horvath,Ryan K. C. Yuen,Karen Usdin,Anna Lehman,Laura Cif,Phillip A. Richmond

MOVEMENT DISORDERS (2025)

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A Position Statement on the Post Gene-Therapy Rehabilitation of Aromatic I-amino Acid Decarboxylase Deficiency Patients

Hui-Min Lee,Saadet Mercimek-Andrews,Gabriella Horvath, Diana Marchese, Richard E. Poulin, Alexis Krolick, Kati-Lyn Tierney, Jasmine Turna, Judy Wei,Wuh-Liang Hwu

Orphanet Journal of Rare Diseasesno. 1 (2024)

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DIP2B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder

Emilie T. Théberge, Kate Durbano,Diane Demailly,Sophie Huby,Arezoo Mohajeri, CareRare Canada Consortium,Clara van Karnebeek,Gabriella A. Horvath,Karen Usdin,Anna Lehman,Laura Cif,Phillip A. Richmond

medrxiv（2024）

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Clinical and Electrophysiological Features of SCN8A Variants Causing Episodic or Chronic Ataxia

Hang Lyu,Christian M. Bosselmann,Katrine M. Johannesen,Mahmoud Koko,Juan Dario Ortigoza-Escobar,Sergio Aguilera-Albesa, Deyanira Garcia -Navas Nunez,Tarja Linnankivi,Eija Gaily, Henriette J. A. van Ruiten, Ruth Richardson,Cornelia Betzler,Gabriella Horvath,Eva Brilstra,Niels Geerdink,Daniele Orsucci,Alessandra Tessa,Elena Gardella,Zofia Fleszar,Ludger Schoels,Holger Lerche,Rikke S. Moller,Yuanyuan Liu

EBIOMEDICINE（2023）

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Biallelic PRMT7 Pathogenic Variants Are Associated with a Recognizable Syndromic Neurodevelopmental Disorder with Short Stature, Obesity, and Craniofacial and Digital Abnormalities

Elisa Cali,Mohnish Suri,Marcello Scala,Matteo P. Ferla,Shahryar Alavi,Eissa Ali Faqeih,Emilia K. Bijlsma,Kristen M. Wigby,Diana Baralle,Mohammad Y. Mehrjardi,Jennifer Schwab,Konrad Platzer,Katharina Steindl,Mais Hashem,Marilyn Jones,Dmitriy M. Niyazov,Jennifer Jacober,Rebecca Okashah Littlejohn,Denisa Weis,Neda Zadeh,Lance Rodan,Alice Goldenberg,Francois Lecoquierre,Marina Dutra-Clarke,Gabriella Horvath,Dana Young,Naama Orenstein, Shahad Bawazeer,Anneke T. Vulto-van Silfhout,Yvan Herenger,Mohammadreza Dehghani,Seyed Mohammad Seyedhassani,Amir Bahreini, Mahya E. Nasab,A. Gulhan Ercan-Sencicek,Zahra Firoozfar,Mojtaba Movahedinia,Stephanie Efthymiou,Pasquale Striano,Ehsan Ghayoor Karimiani,Vincenzo Salpietro,Jenny C. Taylor,Melody Redman,Alexander P. A. Stegmann,Andreas Laner,Ghada Abdel-Salam,Megan Li,Mario Bengala, Amelie Johanna Muller,Maria C. Digilio,Anita Rauch,Murat Gunel,Hannah Titheradge,Daniela N. Schweitzer,Alison Kraus,Irene Valenzuela,Scott D. McLean,Chanika Phornphutkul,Mustafa Salih,Amber Begtrup,Rhonda E. Schnur,Erin Torti,Tobias B. Haack,Carlos E. Prada,Fowzan S. Alkuraya,Henry Houlden,Reza Maroofian

GENETICS IN MEDICINE（2023）

引用6浏览0WOS引用

Macrocytosis in Mitochondrial DNA Deletion Syndromes

Farida Almarzooqi,Hilary Vallance,Michelle M. Mezei,Anna Lehman,Gabriella Horvath,Bojana Rakic,Leslie Zypchen,Andre Mattman

ACTA HAEMATOLOGICAno. 3 (2023): 220-225

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Use of Dexamethasone in Acute Rhabdomyolysis in LPIN1 Deficiency

Mehdi Yeganeh,Kaitlin March, Catherine Jones,Gloria Ho,Kathryn A. Selby,Jean-Pierre Chanoine,Sylvia Stockler,Ramona Salvarinova,Gabriella Horvath,Catherine Brunel-Guitton

Molecular Genetics and Metabolism Reports (2023): 100961-100961

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Clinical and Metabolomic Peculiarities in Monogenic Disorders Affecting Urea Cycle or Mitochondrial ATP Synthase

Botezatu Alina,Adina Chis,Calin Deleanu,Cecilia Lazea,Gabriella Horvath,Melinda Baizat,Ligia Blaga,Simona Bucerzan,Alina Nicolescu,Romana Vulturar

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 435-435

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