Severe manifestation of Rauch‐Azzarello syndrome associated with biallelic deletion of CTNND2
Pauly, Melissa, Krumbiegel, Mandy, Trumpp, Sandra, Braig, Sonja, Rupprecht, Thomas, Kraus, Cornelia, Uebe, Steffen, Reis, André, Vasileiou, Georgia
Published in Clinical genetics (01.08.2024)
Published in Clinical genetics (01.08.2024)
Get full text
Journal Article
Clubbing of fingers and nails in primary hypertrophic osteoarthropathy type 1
Pauly, Melissa, Hüffmeier, Ulrike, Schmitt-Haendle, Matthias
Published in Deutsches Ärzteblatt international (18.10.2024)
Published in Deutsches Ärzteblatt international (18.10.2024)
Get full text
Journal Article
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
Albuainain, Fatimah, Shi, Yuwei, Lor-Zade, Sarah, Hüffmeier, Ulrike, Pauly, Melissa, Reis, André, Faivre, Laurence, Maraval, Julien, Bruel, Ange-Line, Them, Frédéric Tran Mau, Haack, Tobias B, Grasshoff, Ute, Horber, Veronka, Schot, Rachel, van Slegtenhorst, Marjon, Wilke, Martina, Barakat, Tahsin Stefan
Published in European journal of human genetics : EJHG (01.03.2024)
Published in European journal of human genetics : EJHG (01.03.2024)
Get full text
Journal Article
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, Kleefstra, Tjitske
Published in American journal of human genetics (08.08.2024)
Published in American journal of human genetics (08.08.2024)
Get full text
Journal Article
Pathogenic PHIP Variants are Variably Associated With CAKUT
de Fallois, Jonathan, Sieckmann, Tobias, Schönauer, Ria, Petzold, Friederike, Münch, Johannes, Pauly, Melissa, Vasileiou, Georgia, Findeisen, Christin, Kampmeier, Antje, Kuechler, Alma, Reis, André, Decker, Eva, Bergmann, Carsten, Platzer, Konrad, Tasic, Velibor, Kirschner, Karin Michaela, Shril, Shirlee, Hildebrandt, Friedhelm, Chung, Wendy K., Halbritter, Jan
Published in Kidney international reports (01.08.2024)
Published in Kidney international reports (01.08.2024)
Get full text
Journal Article
Thinking about Teaching through Inquiry (Inquiry about Learners and Learning)
Cousin, Patricia Tefft, Dembrow, Melissa Pauly, Molldrem-Shamel, Jennifer
Published in The Reading teacher (01.10.1997)
Get full text
Published in The Reading teacher (01.10.1997)
Journal Article
Inquiry about Learners and Learning: Thinking about Teaching through Inquiry
Cousin, Patricia Tefft, Dembrow, Melissa Pauly, Molldrem-Shamel, Jennifer
Published in The Reading teacher (01.10.1997)
Get full text
Published in The Reading teacher (01.10.1997)
Journal Article