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Showing 13 - 19 of 19 results
Publication

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K; Wigby, Kristen M; Baralle, Diana; Mehrjardi, Mohammad Y V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, François; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E; Ercan-Sencicek, A Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C; Redman, Melody; Stegmann, Alexander P A; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Müller, Amelie Johanna; Digilio, Maria C; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N; Kraus, Alison; Valenzuela, Irene; McLean, Scott D; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E; Torti, Erin; Haack, Tobias B; Prada, Carlos E; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza

Publication

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.

Koopmann, Tamara T; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; Zifarelli, Giovanni; Karimiani, Ehsan G; Sedighzadeh, Sahar; Bahreini, Amir; Nouri, Nayereh; Peter, Merlene; Watanabe, Kyoko; van Duyvenvoorde, Hermine A; Ruivenkamp, Claudia A L; Teunissen, Aalbertine K K; Ten Harkel, Arend D J; van Duinen, Sjoerd G; Haak, Monique C; Prada, Carlos E; Santen, Gijs W E; Maroofian, Reza

Publication

International Pediatric Multidisciplinary Management Using Telemedicine to Promote Equitable Care.

Mena, Rafael; Mendoza, Esperanza; Mangano, Francesco T; Henrickson, Michael; Scott, Michael; DeFoor, William R; Little, Kevin J; Ruschman, Jennifer; Prada, Carlos E