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Papers共 73 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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KDM2B Variants in the CxxC Domain Impair Its DNA-binding Ability and Cause a Distinct Neurodevelopmental Syndrome
Amber S E van Oirsouw,Michael A Hadders, Martijn Koetsier, Edith D J Peters, Nurit Assia Batzir,Tahsin Stefan Barakat,Diana Baralle, Adelyn Beil,Marie-Noëlle Bonnet-Dupeyron,Philip M Boone,Arjan Bouman, Deanna Alexis Carere, Benjamin Cogne, Leslie Dunnington, Laura S Farach, Casie A Genetti,Bertrand Isidor, Louis Januel, Aakash Joshi,Nayana Lahiri, Kristen N Lee,Idit Maya,Meriel McEntagart,Hope Northrup, Mathilde Pujalte, Kate Richardson,Susan Walker, Bobby P C Koeleman,Mariëlle Alders, Richard H van Jaarsveld,Renske Oegema
Human molecular genetics (2025)
Cited0Views0WOSBibtex
0
0
GestaltMatcher Database - A Global Reference for Facial Phenotypic Variability in Rare Human Diseases
Hellen Lesmann,Alexander Hustinx,Shahida Moosa,Hannah Klinkhammer,Elaine Marchi,Pilar Caro,Ibrahim M Abdelrazek,Jean Tori Pantel, Merle Ten Hagen,Meow-Keong Thong, Rifhan Azwani Binti Mazlan,Sok Kun Tae,Tom Kamphans,Wolfgang Meiswinkel,Jing-Mei Li,Behnam Javanmardi,Alexej Knaus,Annette Uwineza,Cordula Knopp,Tinatin Tkemaladze,Miriam Elbracht, Larissa Mattern,Rami Abou Jamra,Clara Velmans,Vincent Strehlow,Maureen Jacob,Angela Peron,Cristina Dias,Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro,Chong Ae Kim,Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain,Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad,Sarah Wiethoff,Himanshu Goel, Clara Tang, Anna Hau,Tahsin Stefan Barakat, Przemysław Panek,Amira Nabil, Julia Suh,Frederik Braun,Israel Gomy,Luisa Averdunk,Ekanem Ekure,Gaber Bergant,Borut Peterlin,Claudio Graziano,Nagwa Gaboon, Moisés Fiesco-Roa,Alessandro Mauro Spinelli, Nina-Maria Wilpert,Prasit Phowthongkum,Nergis Güzel,Tobias B Haack,Rana Bitar,Andreas Tzschach,Agusti Rodriguez-Palmero,Theresa Brunet,Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack,Carole Samango-Sprouse,Teresa Sadeghin, Margaret Olaya,Konrad Platzer,Artem Borovikov,Franziska Schnabel,Lara Heuft, Vera Herrmann,Renske Oegema,Nour Elkhateeb,Sheetal Kumar,Katalin Komlosi, Khoushoua Mohamed,Silvia Kalantari,Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed,Amaia Lasa-Aranzasti,John A Sayer,Nadja Ehmke,Magdalena Danyel,Henrike Sczakiel,Sarina Schwartzmann,Felix Boschann,Max Zhao,Ronja Adam, Lara Einicke,Denise Horn,Kee Seang Chew,Choy Chen Kam, Miray Karakoyun,Ben Pode-Shakked,Aviva Eliyahu,Rachel Rock, Teresa Carrion,Odelia Chorin,Yuri A Zarate, Marcelo Martinez Conti,Mert Karakaya,Moon Ley Tung,Bharatendu Chandra,Arjan Bouman,Aime Lumaka,Naveed Wasif,Marwan Shinawi,Patrick R Blackburn,Tianyun Wang, Tim Niehues,Axel Schmidt, Regina Rita Roth,Dagmar Wieczorek,Ping Hu,Rebekah L Waikel,Suzanna E Ledgister Hanchard,Gehad Elmakkawy,Sylvia Safwat,Frédéric Ebstein,Elke Krüger,Sébastien Küry,Stéphane Bézieau,Annabelle Arlt,Eric Olinger,Felix Marbach, Dong Li,Lucie Dupuis,Roberto Mendoza-Londono,Sofia Douzgou Houge,Denisa Weis,Brian Hon-Yin Chung,Christopher C Y Mak,Hülya Kayserili,Nursel Elcioglu,Ayca Aykut, Peli Özlem Şimşek-Kiper,Nina Bögershausen,Bernd Wollnik,Heidi Beate Bentzen,Ingo Kurth,Christian Netzer,Aleksandra Jezela-Stanek,Koen Devriendt,Karen W Gripp,Martin Mücke,Alain Verloes,Christian P Schaaf,Christoffer Nellåker,Benjamin D Solomon,Markus M Nöthen,Ebtesam Abdalla,Gholson J Lyon,Peter M Krawitz,Tzung-Chien Hsieh
medRxiv the preprint server for health sciences（2024）
Cited12Views0WOSBibtex
12
0
Unveiling the Crucial Neuronal Role of the Proteasomal ATPase Subunit Gene PSMC5 in Neurodevelopmental Proteasomopathies
Sébastien Küry,Janelle E Stanton,Geeske van Woerden,Tzung-Chien Hsieh,Cory Rosenfelt,Marie Pier Scott-Boyer,Victoria Most,Tianyun Wang,Jonas Johannes Papendorf,Charlotte de Konink,Wallid Deb,Virginie Vignard,Maja Studencka-Turski,Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel,Sophie Möller,Laëtitia Florenceau,Silvestre Cuinat, Sylvain Marsac,Ingrid Wentzensen, Annabelle Tuttle,Cara Forster,Johanna Striesow,Richard Golnik,Damara Ortiz, Laura Jenkins,Jill A Rosenfeld,Alban Ziegler,Clara Houdayer,Dominique Bonneau,Erin Torti,Amber Begtrup,Kristin G Monaghan,Sureni V Mullegama, C M L Nienke Volker-Touw,Koen L I van Gassen,Renske Oegema, Mirjam de Pagter,Katharina Steindl,Anita Rauch,Ivan Ivanovski,Kimberly McDonald,Emily Boothe,Andrew Dauber,Janice Baker, Noelle Andrea V Fabie,Raphael A Bernier,Tychele N Turner,Siddharth Srivastava,Kira A Dies,Lindsay Swanson,Carrie Costin,Rebekah K Jobling,John Pappas,Rachel Rabin,Dmitriy Niyazov,Anne Chun-Hui Tsai, Karen Kovak,David B Beck, McV Malicdan,David R Adams,Lynne Wolfe,Rebecca D Ganetzky,Colleen Muraresku,Davit Babikyan,Zdeněk Sedláček,Miroslava Hančárová,Andrew T Timberlake,Hind Al Saif, Berkley Nestler,Kayla King,M J Hajianpour,Gregory Costain, D'Arcy Prendergast,Chumei Li,David Geneviève,Antonio Vitobello,Arthur Sorlin,Christophe Philippe,Tamar Harel,Ori Toker,Ataf Sabir,Derek Lim,Mark Hamilton,Lisa Bryson,Elaine Cleary,Sacha Weber,Trevor L Hoffman,Anna Maria Cueto-González,Eduardo Fidel Tizzano,David Gómez-Andrés,Marta Codina-Solà,Athina Ververi,Efterpi Pavlidou,Alexandros Lambropoulos,Kyriakos Garganis,Marlène Rio,Jonathan Levy,Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard,Maria Daniela D'Agostino,Isabelle De Bie,Meret Wegler,Rami Abou Jamra,Susanne B Kamphausen,Viktoria Bothe,Larissa M Busch,Uwe Völker,Elke Hammer,Kristian Wende,Benjamin Cogné,Bertrand Isidor,Jens Meiler, Amélie Bosc-Rosati,Julien Marcoux,Marie-Pierre Bousquet,Jeremie Poschmann,Frédéric Laumonnier,Peter W Hildebrand,Evan E Eichler,Kirsty McWalter,Peter M Krawitz,Arnaud Droit,Ype Elgersma,Andreas M Grabrucker,Francois V Bolduc,Stéphane Bézieau,Frédéric Ebstein,Elke Krüger
medRxiv the preprint server for health sciences (2024)
Cited2Views0WOSBibtex
2
0
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Author Statistics

#Papers: 73

#Citation: 2247

H-Index: 24

G-Index: 47

Sociability: 8

Diversity: 3

Activity: 29

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