Хайлтын үр дүнгүүд - Adeline Jacquinet

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  1. 1
    Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies

    Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies -н Adeline Jacquinet, Lydie Flasse, Manon Dohet, Romane Vanhaeren, Hélène Pendeville, Carol Saunders, Anna Lehman, Catherine Pienkowski, Karine Morcel, Daniel Guerrier, Vincent Bours, Bernard Peers

    Хэвлэсэн 2025
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    Pré-impressão
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  2. 2
    <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome

    <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome -н Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Jérôme Thiry, Claire Josse, Aimé Lumaka, Elise Brischoux‐Boucher, Christèle Dubourg, Véronique David, Laurent Pasquier, Anna Lehman, Karine Morcel, Daniel Guerrier, Vincent Bours

    Хэвлэсэн 2020
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    Artigo
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  3. 3
    Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

    Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours -н Aimé Lumaka, Corinne Fasquelle, François‐Guillaume Debray, Serpil Alkan, Adeline Jacquinet, Julie Harvengt, François Boemer, André Mulder, Sandrine Vaessen, Renaud Viellevoye, Léonor Palmeira, Benoît Charloteaux, Anne Brysse, Saskia Bulk, Vincent Rigo, Vincent Bours

    Хэвлэсэн 2023
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    Artigo
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  4. 4
    Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

    Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy -н Ilse Luyckx, Gretchen MacCarrick, Marlies Kempers, Josephina Meester, Céline Geryl, Olivier Rombouts, Nils Peeters, Charlotte Claes, Nele Boeckx, Natzi Sakalihasan, Adeline Jacquinet, Alexander Hoischen, Geert Vandeweyer, Sarah Van Lent, Johan Saenen, Emeline M. Van Craenenbroeck, Janneke Timmermans, Anthonie L. Duijnhouwer, Harry C. Dietz, Lut Van Laer, Bart Loeys, Aline Verstraeten

    Хэвлэсэн 2019
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    Artigo
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  5. 5
    ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

    ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects -н Kosuke Izumi, Maggie Brett, Eriko Nishi, Séverine Drunat, Ee‐Shien Tan, Katsunori Fujiki, Sophie Lebon, Breana Cham, Koji Masuda, Michiko Arakawa, Adeline Jacquinet, Yusuke Yamazumi, Shu-Ting Chen, Alain Verloès, Yuki Okada, Yuki Katou, Tomohiko Nakamura, Tetsu Akiyama, Pierre Gressèns, Roger Foo, Sandrine Passemard, Ene‐Choo Tan, Vincent El Ghouzzi, Katsuhiko Shirahige

    Хэвлэсэн 2016
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    Artigo
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  6. 6
    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly -н Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa

    Хэвлэсэн 2017
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    Artigo
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  7. 7
    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation -н Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, Christopher H. Thompson, Seok Kyu Kang, Katrien Stouffs, Anna Jansen, Lieve Verstraete, Adeline Jacquinet, Elena Parrini, Renzo Guerrini, Yuh Fujiwara, Satoko Miyatake, Bruria Ben‐Zeev, Haim Bassan, Orit Reish, Daphna Marom, Natalie Hauser, Thuy‐Anh Vu, Sally Ackermann, Careni Spencer, Natalie Lippa, Shraddha Srinivasan, Agnieszka Charzewska, Dorota Hoffman‐Zacharska, David Fitzpatrick, Victoria Harrison, Pradeep Vasudevan, Shelagh Joss, Daniela T. Pilz, Katherine A. Fawcett, Ingo Helbig, Naomichi Matsumoto, Jennifer A. Kearney, Andrew E. Fry, Ethan M. Goldberg

    Хэвлэсэн 2020
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    Artigo
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  8. 8
    Population-based, first-tier genomic newborn screening in the maternity ward

    Population-based, first-tier genomic newborn screening in the maternity ward -н François Boemer, Kristine Hovhannesyan, Flávia Piazzon, Frédéric Minner, Myriam Mni, Valérie Jacquemin, Davood Mashhadizadeh, Noor Benmhammed, Vincent Bours, Adeline Jacquinet, Julie Harvengt, Saskia Bulk, Vinciane Dideberg, Laura Helou, Léonor Palmeira, Tamara Dangouloff, Serpil Alkan, Christophe Barrea, Paulina Bartoszek, Émeline Bequet, H. Boboli, Romain Bruninx, Laure Collard, Aurore Daron, François-Guillaume Debray, Marie-Françoise Dresse, Jean-Marie Dubru, Iulia Ebetiuc, Benoît Florkin, Caroline Jacquemart, Céline Kempeneers, Nadège Hennuy, Marie-Christine Lebrethon, Marie Leonard, Patricia Leroy, Angélique Lhomme, Jacques Lombet, Sabine Michotte, Ariane Milet, Anne‐Simone Parent, Vincent Rigo, Marie-Christine Seghaye, Sandrine Vaessen, Laurent Servais

    Хэвлэсэн 2025
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    Artigo
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