检索结果 - Nadja Ehmke

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  1. 1
    MutationDistiller: user-driven identification of pathogenic DNA variants

    MutationDistiller: user-driven identification of pathogenic DNA variants 由 Daniela Hombach, Markus Schuelke, Ellen Knierim, Nadja Ehmke, Jana Marie Schwarz, Björn Fischer‐Zirnsak, Dominik Seelow

    出版 2019
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  2. 2
    VarFish: comprehensive DNA variant analysis for diagnostics and research

    VarFish: comprehensive DNA variant analysis for diagnostics and research 由 Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, Stefan Mundlos, Alexej Knaus, Uwe Kornak, Dominik Seelow, Lara Segebrecht, Malte Spielmann, Björn Fischer‐Zirnsak, Felix Boschann, Ute I. Scholl, Nadja Ehmke, Dieter Beule

    出版 2020
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  3. 3
    Regulatory variants of FOXG1 in the context of its topological domain organisation

    Regulatory variants of FOXG1 in the context of its topological domain organisation 由 Mana M. Mehrjouy, Ana Carolina Fonseca, Nadja Ehmke, Giorgio Adriano Paskulin, Antonio Novelli, Francesco Benedicenti, Maria Antonietta Mencarelli, Alessandra Renieri, Tiffany Busa, Chantal Missirian, Claus Hansen, Kikue Terada Abe, Carlos E. Speck‐Martins, Angela Maria Vianna‐Morgante, Mads Bak, Niels Tommerup

    出版 2017
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  4. 4
    DOENÇA ARTICULAR NA INTERFERONPATIA TIPO 1 RELACIONADA AO MDA‐5 ‐ UMA FORMA MENDELIANA DA ARTROPATIA DE JACCOUD

    DOENÇA ARTICULAR NA INTERFERONPATIA TIPO 1 RELACIONADA AO MDA‐5 ‐ UMA FORMA MENDELIANA DA ARTROPATIA DE JACCOUD 由 Flávio Falcão Lima de Souza, Luciana Martins de Carvalho, Nadja Ehmke, Gonza Ngoumou, Naoki Kitabayashi, Isabelle Melki, Nikolaus Deigendesch, Marcello Henrique Nogueira‐Barbosa, Virgínia Paes Leme Ferriani, Paulo Louzada‐Júnior, Wilson Marques, Charles Marques Lourenço, Denise Horn, Tilmann Kallinich, Werner Stenzel, Gillian Rice, Yanick J. Crow

    出版 2017
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  5. 5
    Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy

    Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy 由 Luciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, Nadja Ehmke, Nikolaus Deigendesch, Naoki Kitabayashi, Isabelle Melki, Flávio Falcão Lima de Souza, Andreas Tzschach, Marcello Henrique Nogueira‐Barbosa, Virgínia Paes Leme Ferriani, Paulo Louzada‐Júnior, Wilson Marques, Charles Marques Lourenço, Denise Horn, Tilmann Kallinich, Werner Stenzel, Sun Hur, Gillian Rice, Yanick J. Crow

    出版 2017
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  6. 6
    Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

    Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome 由 Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G. Kant, Zornitza Stark, Valérie Cormier‐Daire, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer‐Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Céline Huber, Izabela Harabula, Malte Spielmann, Denise Horn, Uwe Kornak, Jochen Hecht, Peter Krawitz, Peter Nürnberg, Reiner Siebert, H Manzke, Stefan Mundlos

    出版 2014
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  7. 7
    Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

    Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome 由 Tomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth, Marten Jäger, Jochen Hecht, Peter Krawitz, Luitgard Graul‐Neumann, Sandra C. Doelken, Nadja Ehmke, Malte Spielmann, Nancy Christine Øien, Michal R. Schweiger, Ulrike Krüger, Götz Frommer, Björn Fischer‐Zirnsak, Uwe Kornak, Ricarda Flöttmann, Amin Ardeshirdavani, Yves Moreau, Suzanna Lewis, Melissa Haendel, Damian Smedley, Denise Horn, Stefan Mundlos, Peter N. Robinson

    出版 2014
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  8. 8
    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype

    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype 由 Leonie A. Menke, Martine J. van Belzen, Mariëlle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H. Gerkes, Mariëtte J.V. Hoffer, Denise Horn, Sarina G. Kant, Didier Lacombe, Eyby Leon, Saskia M. Maas, Daniela Melis, Valentina Muto, Soo‐Mi Park, Hilde Peeters, Dorien J.M. Peters, Rolph Pfundt, Conny M.A. van Ravenswaaij‐Arts, Marco Tartaglia, Raoul C. M. Hennekam

    出版 2016
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  9. 9
    Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

    Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia 由 Sharissa L. Latham, Nadja Ehmke, P. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa Neuhann, Denise Horn, Evelin Schröck, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constança Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

    出版 2018
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  10. 10
    De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

    De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction 由 Nadja Ehmke, Luitgard Graul‐Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra KAYA KILIÇ, Anna Floriane Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M. Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Hölger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A. Bacino, Penelope E. Bonnen, Bernd Wollnik, Björn Fischer‐Zirnsak, Uwe Kornak

    出版 2017
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  11. 11
    Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders

    Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders 由 Fanny Mochel, Agnès Rastetter, Berten Ceulemans, Konrad Platzer, Sandra Yang, Deepali N. Shinde, Katherine L. Helbig, Diego Lopergolo, Francesca Mari, Alessandra Renieri, Elisa Benetti, Roberto Canitano, Quinten Waisfisz, Astrid S. Plomp, Sylvia Huisman, Golder N. Wilson, Sara Cathey, Raymond J. Louie, Daniela del Gaudio, Darrel Waggoner, Shawn Kacker, Kimberly Nugent, Elizabeth Roeder, Ange-Line Bruel, Julien Thévenon, Nadja Ehmke, Denise Horn, Manuel Holtgrewe, Frank J. Kaiser, Susanne Kamphausen, Rami Abou Jamra, Sarah Weckhuysen, Carine Dalle, Christel Depienne

    出版 2020
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  12. 12
    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders 由 Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman, Kathleen Brown, Maxime Cadieux‐Dion, Tracy Cartwright, Yanmin Chen, Carrie Costin, Sarah Fehr, Keely Fitzgerald, Emily Fleming, Kimberly Foss, Thoa K. Ha, Gabriele Hildebrand, Denise Horn, Shuxi Liu, Elysa J. Marco, Marie McDonald, Kirsty McWalter, Simone Race, Eric T. Rush, Yue Si, Carol Saunders, Anne Slavotinek, Sylvia Stöckler‐Ipsiroglu, Aida Telegrafi, Isabelle Thiffault, Erin Torti, Anne Chun‐Hui Tsai, Xin Wang, Muhammad Sohail Zafar, Boris Keren, Uwe Kornak, Cornelius F. Boerkoel, Ghayda Mirzaa, Nadja Ehmke

    出版 2019
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  13. 13
    Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

    Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) 由 Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht, Aida I. Al Aqeel, Amal Alhashem, Nouriya Al‐Sannaa, Maissa Bah, Katharina Bröhl, Christel Depienne, Nathalie Dorison, Diane Doummar, Nadja Ehmke, Hasnaa M. Elbendary, Svetlana Gorokhova, Delphine Héron, Denise Horn, Kiely N. James, Boris Keren, Alma Kuechler, Samira Ismail, Mahmoud Y. Issa, Isabelle Marey, M. Mayer, Jennifer McEvoy‐Venneri, André Mégarbané, Cyril Mignot, Sarar Mohamed, Caroline Nava, Nicole Philip, C. Mignon Ravix, Arndt Rolfs, Abdelrahim A. Sadek, Lara Segebrecht, Valentina Stanley, Camille Trautman, Stéphanie Valence, Laurent Villard, Thomas Wieland, Hartmut Engels, Tim M. Strom, Maha S. Zaki, Joseph G. Gleeson, Hermann‐Josef Lüdecke, Peter Bauer, Dagmar Wieczorek

    出版 2018
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  14. 14
    GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

    GestaltMatcher facilitates rare disease matching using facial phenotype descriptors 由 Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W. Gripp, Jean Tori Pantel, Magdalena Danyel, Martin A. Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bézieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C. Betz, Tim Bender, Kathrin Grundmann‐Hauser, Tobias B. Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J. Lyon, Malte Spielmann, Christian P. Schaaf, Stefan Mundlos, Markus M. Nöthen, Peter Krawitz

    出版 2022
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  15. 15
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies 由 Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    出版 2019
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  16. 16
    PEDIA: prioritization of exome data by image analysis

    PEDIA: prioritization of exome data by image analysis 由 Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis E. Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer‐Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul‐Neumann, Karen W. Gripp, Yaron Gurovich, А.А. Гусина, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela M. Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, А. В. Лавров, Maximilian Leitheiser, Gholson J. Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martínez Carrascal, Diana Mitter, Laura Morlán Herrador, Guy Nadav, Markus M. Nöthen, Alfredo Orrico, Claus‐Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas‐Rothschild, Linda M. Randolph, Nicole Revençu, Christina Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Goražd Rudolf, Ulrich A. Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin‐Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T. Thiel, Gundula Thiel, Alain Verloès, Irena Vrečar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter Krawitz

    出版 2019
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  17. 17
    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis 由 Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, Nancy Végas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld‐Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga‐Jauregui, Yuri A. Zárate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G. Kant, Youngha Lee, Gisele E. Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G. Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G. Mehaffey, Pierre‐Marie Martin, Benjamin J. Apple, Francisca Millan, Oliver Puk, Mariëtte J.V. Hoffer, Lindsay B. Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Lim Cho Pei, Farah Zahir, Mullin H.C. Yu, William T. Gibson, Ann Seman, Marcie Steeves, Jill R. Murrell, Sabine Luettgen, E. Nicolás Francisco, Tim M. Strom, Louise Amlie‐Wolf, Angela M. Kaindl, William G. Wilson, Sara Halbach, Lina Basel‐Vanagaite, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine H. Zackai, Jan M. Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R. Reid, Koenraad Devriendt, Jong‐Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Yang Tan, Naama Orenstein, William B. Dobyns, Joseph T.C. Shieh, Murim Choi, Darrel Waggoner, Karen W. Gripp, Michael Parker, Joan M. Stoler, Stanislas Lyonnet, Valérie Cormier‐Daire, David Viskochil, Trevor L. Hoffman, Jeanne Amiel, Brian Hon‐Yin Chung, Christopher T. Gordon

    出版 2019
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  18. 18
    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 由 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 Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei 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 Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Mirosław Kwaśniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Sze-Man Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem N. Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa E. A. Gaboon, Moisés Ó. Fiesco-Roa, Alessandro Spinelli, Nina‐Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B. Haack, Rana Bitar, Andreas Tzschach, Agustí Rodríguez‐Palmero, Theresa Brunet, Sabine Rudnik–Schöneborn, Silvina 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 Komlósi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio Federico Martínez‐Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa‐Aranzasti, John A. Sayer, Nadja Ehmke, Magdalena Danyel, Henrike L. Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, R. Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun

    出版 2024
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  19. 19
    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders 由 Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand, Zirui Dong, Malene Bøgehus Rasmussen, Huiya Gu, David Weisz, Lusine Nazaryan‐Petersen, Amanda S. Fjorder, Yuan Mang, Allan Lind-Thomsen, Juan M. M. Mendez, Xabier Calle, Anuja Chopra, Claus Hansen, Merete Bugge, Roeland Broekema, Teppo Varilo, Tiia Maria Luukkonen, J.J.M. Engelen, Angela Maria Vianna‐Morgante, Ana Carolina Fonseca, Juliana F. Mazzeu, Halinna Dornelles-Wawruk, Kikue Terada Abe, Joris Vermeesch, Kris Van Den Bogaert, Carolina Sismani, Constantia Aristidou, Paola Evangelidou, Albert Schinzel, Damien Sanlaville, Caroline Schluth–Bolard, Vera M. Kalscheuer, Maren Wenzel, Hyung‐Goo Kim, Katrin Õunap, Laura Roht, Susanna Midyan, María Clara Bonaglia, Anna Lindstrand, Jesper Eisfeldt, Jesper Ottosson, Daniel Nilsson, Maria Pettersson, Elenice Ferreira Bastos, Evica Rajcan‐Separovic, Fatma Sılan, Frenny Sheth, Antonio Novelli, Eirik Frengen, Madeleine Fannemel, Petter Strømme, Nadja Kokalj Vokač, Cornelia Daumer‐Haas, Danilo Moretti‐Ferreira, Deise Helena de Souza, María A. Ramos‐Arroyo, Maria M. Igoa, Lyudmila Angelova, Peter M. Kroisel, Graciela del Rey, Társis Paiva Vieira, M. E. Suzanne Lewis, Hao Wang, Jana Drabova, Markéta Havlovičová, Miroslava Hančárová, Zdeněk Sedláček, Ida Vogel, Tina Duelund Hjortshøj, Rikke S. Møller, Zeynep Tümer, Christina Fagerberg, Lilian Bomme Ousager, Bitten Schönewolf‐Greulich, Mathilde Lauridsen, Juliette Piard, Céline Pebrel‐Richard, Sylvie Jaillard, Nadja Ehmke, Eunice G. Stefanou, Czakó Marta, Kosztolányi György, Ashwin Dalal, Usha R. Dutta, Rashmi Shukla, Fortunato Lonardo, Orsetta Zuffardi, Gunnar Houge, Doriana Misceo, Shahid Mahmood Baig, Alina T. Midro, Natalia Wawrusiewicz‐Kurylonek, Isabel M. Carreira, Joana Barbosa Melo, Laura Rodriguez Martinez

    出版 2022
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  20. 20
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles 由 Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    出版 2024
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