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Papers共 12 篇Author StatisticsCo-AuthorSimilar Experts

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Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders
Hormos Salimi Dafsari,Celine Deneubourg,Kritarth Singh,Reza Maroofian, Zita Suprenant,Ay Lin Kho,Neil J Ingham,Karen P Steel,Preethi Sheshadri, Franciska Baur, Lea Hentrich,Birgit Gerisch,Mina Zamani,Cesar Alves,Ata Siddiqui,Haidar S Dafsari,Mehri Salari,Anthony Lang,Michael Harris,Alice Abdelaleem,Saeid Sadeghian, Reza Azizalamiri,Hamid Galehdari,Gholamreza Shariati,Alireza Sedaghat,Jawaher Zeighami,Daniel Calame,Dana Marafi,Ruizhi Duan, Adrian Boehnke,Carrie Mohila,Dora Steel, Saurabh Chopra,Suvasini Sharma,Nicolai Kohlschmidt,Steffi Patzer,Afshin Saffari,Darius Ebrahimi-Fakhari,Buesra Eser Cavdartepe,Irene J. Chang,Erika Beckman, Renate Peters,Andrew Paul Fennell,Bernice Lo,Luisa Averdunk,Felix Distelmaier,Martina Baethmann,Frances Elmslie, Karit Joost,Sheela Nampoothiri,Dhanya Yesodharan,Hannah Mandel,Amy Kimball,Antonie D. Kline,Cyril Mignot,Boris Keren,Vincent Laugel,Katrin Ounap,Kalpana Devadathan,Frederique M.C. van Berkestijn, Arpana Silwal,Saskia Koene,Sumit Verma,Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz,Gehad ElGhazali, Lauren Mattas,Mohammad Miryounesi,Farzad Hashemi-Gorji,Shahryar Alavi,Nayereh Nouri, Mehrdad Noruzinia, Saeedeh Kavousi,Arveen Kamath,Sandeep Jayawant,Russell Saneto,Nourelhoda A. Haridy,Pinar Ozkan Kart,Ali Cansu,Claire Beneteau,Kyra E. Stuurman,Martina Wilke,Tahsin Stefan Barakat,Homa Tajsharghi,Annarita Scardamaglia,Sadeq Vallian,Semra Hiz,Ali Shoeibi,Reza Boostani,Narges Hashemi,Meisam Babaei,Norah Saleh Alsaleh, Julie Lander,Tania Attie-Bitach,Pauline Marzin,Dorota Wicher,Jessica I Gold,Mariana H G Monje,Dimitri Krainc,Niccolo Mencacci,Somayeh Bakhtiari,Michael C Kruer,Emanuela Argilli,Elliott Sherr,Yalda Jamshidi,Ehsan Ghayoor Karimiani,Yiu Wing Sunny Cheung,Ivan Karin,Wendy K. Chung,James R. Lupski,Manju A. Kurian,Joerg Doetsch,Juergen-Christoph von Kleist-Retzow,Thomas Klopstock,Matias Wagner,Calvin K. Yip,Andreas Roos,Carlo Dionisi-Vici,Mathias Gautel,Michael R Duchen, Adam Antebi,Henry Houlden,Manolis Fanto,Heinz Jungbluth
Neuropediatrics NEP 49th Annual Meeting of the Society for Neuropediatrics 2024（2024）
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Mainstreaming Genomic Testing: Pre-Test Counselling and Informed Consent
Michaela Cormack, Kathryn B. Irving,Fiona Cunningham,Andrew P. Fennell
MEDICAL JOURNAL OF AUSTRALIAno. 8 (2024): 403-406
Cited1Views0WOSBibtex
1
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Standardized Practices for RNA Diagnostics Using Clinically Accessible Specimens Reclassifies 75% of Putative Splicing Variants
Adam M. Bournazos,Lisa G. Riley,Shobhana Bommireddipalli,Lesley Ades,Lauren S. Akesson,Mohammad Al-Shinnag,Stephen Alexander,Alison D. Archibald,Shanti Balasubramaniam,Yemima Berman,Victoria Beshay,Kirsten Boggs,Jasmina Bojadzieva,Natasha J. Brown,Samantha J. Bryen,Michael F. Buckley,Belinda Chong,Mark R. Davis,Ruebena Dawes,Martin Delatycki,Liz Donaldson,Lilian Downie,Caitlin Edwards,Matthew Edwards, Amanda Engel,Lisa J. Ewans,Fathimath Faiz,Andrew Fennell,Michael Field,Mary-Louise Freckmann,Lyndon Gallacher,Russell Gear,Himanshu Goel,Shuxiang Goh,Linda Goodwin,Bernadette Hanna,James Harraway,Megan Higgins,Gladys Ho,Bruce K. Hopper,Ari E. Horton,Matthew F. Hunter,Aamira J. Huq,Sarah Josephi-Taylor,Himanshu Joshi,Edwin Kirk,Emma Krzesinski,Kishore R. Kumar,Frances Lemckert,Richard J. Leventer,Suzanna E. Lindsey-Temple,Sebastian Lunke,Alan Ma, Steven Macaskill,Amali Mallawaarachchi,Melanie Marty,Justine E. Marum,Hugh J. McCarthy,Manoj P. Menezes,Alison McLean,Di Milnes,Shekeeb Mohammad,David Mowat,Aram Niaz,Elizabeth E. Palmer,Chirag Patel,Shilpan G. Patel,Dean Phelan,Jason R. Pinner,Sulekha Rajagopalan,Matthew Regan,Jonathan Rodgers,Miriam Rodrigues,Richard H. Roxburgh,Rani Sachdev,Tony Roscioli, Ruvishani Samarasekera,Sarah A. Sandaradura,Elena Savva,Tim Schindler,Margit Shah,Ingrid B. Sinnerbrink,Janine M. Smith,Richard J. Smith,Amanda Springer,Zornitza Stark,Samuel P. Strom,Carolyn M. Sue,Kenneth Tan,Tiong Y. Tan,Esther Tantsis,Michel C. Tchan,Bryony A. Thompson,Alison H. Trainer,Karin Van Spaendonck-Zwarts,Rebecca Walsh,Linda Warwick,Stephanie White,Susan M. White,Mark G. Williams,Meredith J. Wilson, Wui Kwan Wong,Dale C. Wright,Patrick Yap,Alison Yeung,Helen Young,Kristi J. Jones,Bruce Bennetts,Sandra T. Cooper
Genetics in medicineno. 1 (2022): 130-145
Cited59Views0WOSBibtex
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Author Statistics

#Papers: 12

#Citation: 274

H-Index: 5

G-Index: 8

Sociability: 6

Diversity: 1

Activity: 3

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