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论文共 125 篇作者统计合作学者相似作者

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Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV is Linked to a Founder Effect in the Belgian Population

Aude Beyens, Stefanie Van De Voorde, Marta Guerreiro Santano Ramos Da Silva, Sofie De Meulemeester,Koen Devriendt,Marleen Goeteyn,Sandra Janssens,R Frank Kooy,Toon Rosseel,Sofie Symoens,Frederik Jan Hes,Kathelijn Keymolen,Boyan Dimitrov,Bert Callewaert

Clinical geneticsno. 5 (2025): 579-581

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RNA-sequencing Unveils FLT4 Splice Site Variants in Variable Congenital Heart Disease

Maxim Verlee,Erika D’haenens,Laurenz De Cock,Laura Muiño Mosquera,Katya De Groote,Kristof Vandekerckhove,Joseph Panzer,Ellen Roets,Björn Menten,Sofie Symoens,Paul Coucke, Tim Vandamme,Sarah Vergult,Bert Callewaert

European Journal of Human Genetics（2025）

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The Clinical Use of Exome Sequencing to Diagnose PCD Patients

Lore Pottie,Sofie Symoens,Elfride De Baere,Kathleen Claes

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 385-385

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High Rate of Detected Variants in Male PLCZ1 and ACTL7A Genes Causing Failed Fertilization after ICSI

Arantxa Cardona Barberan,Ramesh Reddy Guggilla, Cora Colenbier, Emma van der Velden, Andrei Rybouchkin,Dominic Stoop,Luc Leybaert,Paul Coucke,Sofie Symoens,Annekatrien Boel,Frauke Vanden Meerschaut,Bjorn Heindryckx

HUMAN REPRODUCTION OPENno. 4 (2024)

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Retrospective Analysis of Virtual Gene Panel Analysis for Genodermatoses Reveals a High Diagnostic Yield in Clinical Practice

Aude Beyens, Jozefien Weytens,Lore Pottie, Sofie De Meulemeester, Karolien Aelbrecht,Silke De Feyter,Sofie De Schepper, Eline Van Holm,Sofie Symoens,Bert Callewaert

Journal of the American Academy of Dermatology (2024)

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Myhre Syndrome in Adulthood: Clinical Variability and Emerging Genotype-Phenotype Correlations

Eva Vanbelleghem,Tim Van Damme,Aude Beyens,Sofie Symoens,Kathleen Claes,Julie De Backer,Ilse Meerschaut,Floris Vanommeslaeghe,Sigurd E. Delanghe,Jenneke van den Ende,Tessi Beyltjens,Eleanor R. Scimone,Mark E. Lindsay,Lisa A. Schimmenti,Alicia M. Hinze,Emily Dunn,Natalia Gomez-Ospina,Isabelle Vandernoot, Thomas Delguste,Sandra Coppens,Valerie Cormier-Daire,Marco Tartaglia,Livia Garavelli,Joseph Shieh,Senol Demir,Esra Arslan Ates,Martin Zenker,Mersedeh Rohanizadegan,Greysha Rivera-Cruz,Sofia Douzgou, Justin Smith, Jessica Simkins, Don Clark, Stephanie Karatsinides, Sandy Taylor, Ines White, Patti Schultz, Kate Wears, Levi Holder, Kathy Young,Angela E. Lin,Bert Callewaert

European Journal of Human Genetics (2024)

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Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta

Leyli Senturk,Cagri Gulec,Tugba Sarac Sivrikoz,Hulya Kayserili,Ibrahim Halil Kalelioglu,Sahin Avci,Recep Has,Paul Coucke,Tugba Kalayci,Bernd Wollnik,Birsen Karaman,Guven Toksoy,Sofie Symoens,Gokhan Yigit,Atil Yuksel,Seher Basaran,Beyhan Tuysuz,Umut Altunoglu,Zehra Oya Uyguner

FETAL DIAGNOSIS AND THERAPYno. 3 (2024): 285-299

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Aligning Genotyping and Copy Number Data in Single Trophectoderm Biopsies for Aneuploidy Prediction: Uncovering Incomplete Concordance

Lisa De Witte,Machteld Baetens,Kelly Tilleman,Frauke Vanden Meerschaut,Sandra Janssens, Ariane Van Tongerloo, Virginie Szymczak,Dominic Stoop,Annelies Dheedene,Sofie Symoens,Bjorn Menten

Human Reproduction Open (2024)

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Letter in Response To: the Use of Guidelines to Assess the Risk of Malignant Hyperthermia in Individuals with a RYR1 Variant, by N. Voermans, C. Yang, M. Schouten, T. Girard, K. Stowell, S. Riazi Et Al

Sarah Herdewyn,Jan De Bleecker, L. Janssens,Sofie Symoens, Maria Milazzo,Joris De Puydt

Neuromuscular disorders（2023）

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