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Papers共 29 篇Author StatisticsCo-AuthorSimilar Experts

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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
Consensus Guidelines for Eligibility Assessment of Pathogenic Variants to Antisense Oligonucleotide Treatments
David Cheerie, Margaret Meserve,Danique Beijer,Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, Aubrie Soucy Verran, Emma Sherrill, Stefanie Leonard, Stephan J. Sanders,Emily Blake,Nour Elkhateeb, Aastha Gandhi, Nicole S.Y. Liang, Jack T. Morgan, Anna Verwillow,Jan Verheijen, Andrew Giles, Sean Williams,Maya Chopra, Laura Croft,Hormos Salimi Dafsari, Alice E. Davidson, Jennifer Friedman,Anne Gregor,Bushra Haque, Rosan Lechner, Kylie-Ann Montgomery,Mina Ryten, Emil Schober,Gabriele Siegel, Patricia Sullivan, Bianca Zardetto,Timothy W. Yu,Matthis Synofzik,Annemieke Aartsma-Rus,Gregory Costain,Marlen Lauffer, N=1 Collaborative
crossref（2024）
Cited0Views0Bibtex
0
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A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder
Daniel Arbide,Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez,Anna Maw,Soo-Mi Park
Case Reports in Genetics (2024): 1-5
Cited0Views0WOSBibtex
0
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Author Statistics

#Papers: 29

#Citation: 134

H-Index: 5

G-Index: 11

Sociability: 6

Diversity: 2

Activity: 17

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