Výsledky vyhledávání - Dominyka Batkovskyte
- Zobrazuji výsledky 1 - 3 z 3
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1
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome Autor Yin‐Huai Chen, Giedre Grigelioniené, Phillip T Newton, Jacob Gullander, Maria Elfving, Anna Hammarsjö, Dominyka Batkovskyte, Hessa S. Alsaif, Wesam Kurdi, Firdous Abdulwahab, Veerabahu Shanmugasundaram, Luke Devey, Séverine Bacrot, Jana Brodszki, Céline Huber, Ben C.J. Hamel, David Gisselsson, Nikos Papadogiannakis, Katarina Jedrycha, Barbara Gürtl-Lackner, Andrei S. Chagin, Gen Nishimura, Dominik Aschenbrenner, Fowzan S. Alkuraya, Arian Laurence, Valérie Cormier‐Daire, Holm H. Uhlig
Vydáno 2020Artigo -
2
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders Autor Dominyka Batkovskyte, F. Ellis McKenzie, Fulya Taylan, Pelin Özlem Şimşek‐Kiper, Sarah M. Nikkel, Hirofumi Ohashi, Roger E. Stevenson, Thuong Ha, Denise P. Cavalcanti, Hiroyuki Miyahara, Steven A. Skinner, Miguel Ángel Aguirre, Zühal Akçören, Gülen Eda Ütine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroğlu, Hannah W. Moore, Raymond J. Louie, Peer Arts, Allie Merrihew, Milena Babic, Matilda R. Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher Barnett, Hamish S. Scott, Andrei S. Chagin, Gen Nishimura, Giedre Grigelioniené
Vydáno 2020Artigo -
3
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features Autor Mari Tokita, Chun‐An Chen, David Chitayat, Ellen F. Macnamara, Jill A. Rosenfeld, Neil A. Hanchard, Andrea M. Lewis, Chester Brown, Ronit Marom, Yunru Shao, Danica Novacic, Lynne A. Wolfe, Colleen E. Wahl, Cynthia J. Tifft, Camilo Toro, Jonathan A. Bernstein, Caitlin L. Hale, Julia Silver, Louanne Hudgins, Amitha Ananth, Andrea Hanson‐Kahn, Shirley Shuster, Pilar Magoulas, Vipulkumar Patel, Wenmiao Zhu, Stella M. Chen, Yanjun Jiang, Pengfei Liu, Christine M. Eng, Dominyka Batkovskyte, Alberto di Ronza, Marco Sardiello, Brendan Lee, Christian P. Schaaf, Yaping Yang, Xia Wang
Vydáno 2018Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Mutation
Missense mutation
Brachydactyly
Cancer research
Cell biology
Compound heterozygosity
Cytokine
Dysplasia
Ectodermal dysplasia
Global developmental delay
Glycoprotein 130
Hypohidrotic ectodermal dysplasia
Immunology
Interleukin 6
Leukemia inhibitory factor
Leukemia inhibitory factor receptor
Macrocephaly
Medicine
Nonsense mutation
Oncostatin M
Pathology
Pediatrics
Phenotype
Sanger sequencing
Short stature
Signal transduction