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研究兴趣

论文共 104 篇作者统计合作学者相似作者

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MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia
Sara Cabet, Jean-François Ghersi-Egea, Suonavy Khung-Savatovsky,Fabien Guimiot,Audrey Putoux, Isabelle Sabatier, Carla Fernandez,Laure Raymond,Jérémie Mortreux, Hélène Laurichesse Delmas, Fabrice Eric Cuillier, Fabien Ho,Gaetan Lesca, Jean-Luc Alessandri,Laurent Guibaud
Genesno. 6 (2025): 707
引用0浏览0引用
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Oral Phenotype in SATB2-associated Syndrome: Cross-Sectional Study of the French Cohort
Nancy Vegas,Marlène Rio, Pauline Adnot, Véronique Soupre,Florence Petit, Jamal Ghoumid,Annick Toutain,Klaus Dieterich,Isabelle Marey,Brigitte Gilbert-Dussardier, Gwenaël Le Guyader,Christine Francannet,Elise Schaefer,Laurence Perrin,Mathilde Nizon, Claire Beneteau,David Genevieve,Marjolaine Willems,Laurence Faivre, Marianne Grimaldi, Judith Melki,Radka Stoeva,Audrey Putoux,Linda Pons,Karelle Benistan,Jeanne Amiel, Véronique Abadie
Orphanet Journal of Rare Diseasesno. 1 (2025): 1-14
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Prenatal Diagnosis of Microcephaly with Simplified Gyral Pattern: Series of Eight Cases
S. Cabet,A. Putoux,G. Lesca, A. Lesage,M. Massoud,L. Guibaud
ULTRASOUND IN OBSTETRICS & GYNECOLOGYno. 2 (2024): 271-275
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Comprehensive EHMT1 Variants Analysis Broadens Genotype-Phenotype Associations and Molecular Mechanisms in Kleefstra Syndrome
Dmitrijs Rots,Arianne Bouman,Ayumi Yamada,Michael Levy,Alexander J. M. Dingemans,Bert B. A. de Vries,Martina Ruiterkamp-Versteeg,Nicole de Leeuw,Charlotte W. Ockeloen,Rolph Pfundt,Elke de Boer,Joost Kummeling,Bregje van Bon,Hans van Bokhoven,Nael Nadif Kasri,Hanka Venselaar,Marielle Alders,Jennifer Kerkhof,Haley McConkey,Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman,Audrey Smith, Maria Irene Valenzuela,Siddharth Srivastava,Zoe Frazier,Isabelle Maystadt,Carmelo Piscopo,Giuseppe Merla,Meena Balasubramanian,Gijs W. E. Santen,Kay Metcalfe,Soo-Mi Park, Laurent Pasquier,Siddharth Banka,Dian Donnai,Daniel Weisberg,Gertrud Strobl-Wildemann,Annemieke Wagemans,Maaike Vreeburg, Diana Baralle,Nicola Foulds,Ingrid Scurr,Nicola Brunetti-Pierri,Johanna M. van Hagen,Emilia K. Bijlsma,Anna H. Hakonen,Carolina Courage,David Genevieve,Lucile Pinson, Francesca Forzano,Charu Deshpande, Maria L. Kluskens, Lindsey Welling,Astrid S. Plomp,Els K. Vanhoutte,Louisa Kalsner,Janna A. Hol,Audrey Putoux, Johanna Lazier,Pradeep Vasudevan,Elizabeth Ames, Jessica O'Shea,Damien Lederer,Julie Fleischer, Mary O'Connor, Melissa Pauly,Georgia Vasileiou,Andre Reis,Catherine Kiraly-Borri,Arjan Bouman, Chris Barnett,Marjan Nezarati, Lauren Borch,Gea Beunders, Kubra Ozcan, Stephanie Miot,Catharina M. L. Volker-Touw,Koen L. I. van Gassen,Gerarda Cappuccio,Katrien Janssens,Nofar Mor, Inna Shomer,Dan Dominissini,Matthew L. Tedder,Alison M. Muir,Bekim Sadikovic, Han G. Brunner,Lisenka E. L. M. Vissers, Yoichi Shinkai,Tjitske Kleefstra
AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1605-1625
引用3浏览0WOS引用
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作者统计

#Papers: 103

#Citation: 1271

H-Index: 21

G-Index: 34

Sociability: 7

Diversity: 3

Activity: 34

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