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Papers共 10 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Arginine:glycine Amidinotransferase (AGAT) Deficiency: an Easy-to-miss Treatable Adult-Onset Myopathy
Yael Finezilber, Charlotte Massey,Jessica A. Radley,Elaine Murphy
PRACTICAL NEUROLOGYno. 5 (2024): 413-416
Cited0Views0WOSBibtex
0
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Large-scale Evaluation of Outcomes Following a Genetic Diagnosis in Children with Severe Developmental Disorders
Harriet Copeland,Karen J Low,Sarah Wynn, Ayesha Ahmed, Victoria Arthur,Meena Balasubramanian, Katya Bennett,Jonathan Berg,Marta Bertoli,Lisa Bryson, Catrin Bucknall,Jamie Campbell,Kate Chandler,Jaynee Chauhan, Amy Clarkson, Rachel Coles, Hector Conti,Philandra Costello, Tessa Coupar, Amy Craig,John Dean, Amy Dillon,Abhijit Dixit, Kathryn Drew,Jacqueline Eason,Francesca Forzano,Nicky Foulds,Alice Gardham,Neeti Ghali,Andrew Green, William Hanna,Rachel Harrison, Mairead Hegarty,Jenny Higgs,Muriel Holder,Rachel Irving,Vani Jain,Katie Johnson, Rachel Jolley,Wendy Jones,Gabriela Jones,Shelagh Joss, Ruta Kalinauskiene, Farah Kanini,Karl Kavanagh, Mahmudur Khan,Naz Khan,Emma Kivuva,Nayana Lahiri, Neeta Lakhani,Anne Lampe,Sally Ann Lynch,Sahar Mansour, Alice Marsden, Hannah Massey,Shane McKee,Shehla Mohammed,Swati Naik, Mithushanaa Nesarajah,Ruth Newbury-Ecob, Fiona Osborne,Michael J Parker,Jenny Patterson,Caroline Pottinger,Matina Prapa,Katrina Prescott, Shauna Quinn,Jessica A Radley,Sarah Robart,Alison Ross,Giulia Rosti,Francis Sansbury,Ajoy Sarkar,Claire Searle,Nora Shannon,Debbie Shears,Sarah Smithson,Helen Stewart,Mohnish Suri,Shereen Tadros, Rachel Theobald, Rhian Thomas, Olga Tsoulaki,Pradeep Vasudevan, Maribel Verdesoto,Emma Vittery, Sinead Whyte,Emily Woods,Thomas Wright,David Zocche,Helen V Firth,Caroline F Wright,the DDD Study
Genetics in Medicine Open (2024)
Cited0Views0Bibtex
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Truncating SRCAP Variants Outside the Floating-Harbor Syndrome Locus Cause a Distinct Neurodevelopmental Disorder with a Specific DNA Methylation Signature
Dmitrijs Rots,Eric Chater-Diehl,Alexander J. M. Dingemans,Sarah J. Goodman,Michelle T. Siu,Cheryl Cytrynbaum,Sanaa Choufani,Ny Hoang,Susan Walker,Zain Awamleh,Joshua Charkow,Stephen Meyn,Rolph Pfundt,Tuula Rinne,Thatjana Gardeitchik,Bert B. A. de Vries,A. Chantal Deden,Erika Leenders,Michael Kwint,Constance T. R. M. Stumpel,Servi J. C. Stevens,Jeroen R. Vermeulen, Jeske V. T. van Harssel,Danielle G. M. Bosch,Koen L. van Gassen,Ellen van Binsbergen,Christa M. de Geus, Hein Brackel,Maja Hempel,Davor Lessel,Jonas Denecke,Anne Slavotinek,Jonathan Strober,Amy Crunk,Leandra Folk,Ingrid M. Wentzensen,Hui Yang,Fanggeng Zou,Francisca Millan,Richard Person,Yili Xie,Shuxi Liu,Lilian B. Ousager,Martin Larsen,Laura Schultz-Rogers,Eva Morava,Eric W. Klee,Ian R. Berry,Jennifer Campbell,Kristin Lindstrom,Brianna Pruniski,Ann M. Neumeyer,Jessica A. Radley,Chanika Phornphutkul,Berkley Schmidt,William G. Wilson,Katrin Ounap,Karit Reinson,Sander Pajusalu,Arie van Haeringen,Claudia Ruivenkamp,Roos Cuperus,Fernando Santos-Simarro,Maria Palomares-Bralo,Marta Pacio-Miguez,Alyssa Ritter,Elizabeth Bhoj,Elin Tonne,Kristian Tveten,Gerarda Cappuccio,Nicola Brunetti-Pierri, Leah Rowe,Jason Bunn,Margarita Saenz,Konrad Platzer,Mareike Mertens,Oana Caluseriu,Malgorzata J. M. Nowaczyk,Ronald D. Cohn,Peter Kannu,Ebba Alkhunaizi,David Chitayat,Stephen W. Scherer,Han G. Brunner,Lisenka E. L. M. Vissers,Tjitske Kleefstra,David A. Koolen,Rosanna Weksberg
American journal of human geneticsno. 6 (2021): 1053-1068
Cited23Views0WOSBibtex
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Author Statistics

#Papers: 10

#Citation: 111

H-Index: 6

G-Index: 7

Sociability: 6

Diversity: 2

Activity: 4

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