نتائج البحث - Boyan Dimitrov
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1
The C20orf133 gene is disrupted in a patient with Kabuki syndrome حسب Nicole Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Connie Schrander‐Stumpel, Damien Sanlaville, David Geneviève, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, J P Fryns, Joris Vermeesch
منشور في 2007Artigo -
2
<i>FGFR1</i>mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly حسب Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C. de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain
منشور في 2013Artigo -
3
Activating<i>RAC1</i>variants in the switch II region cause a developmental syndrome and alter neuronal morphology حسب Siddharth Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans, Giuliana Clemente, Nurhuda Mohamad Ansor, Hilary Sito, P. Phaniram Prasad, Kwame Anyane‐Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna Hurst, Anna Jansen, Melissa Kelly, Ian D. Krantz, Claudine Rieubland, Meredith J. Ross, Natasha L. Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G. Kazanietz, Tom H. Millard
منشور في 2022Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Phenotype
Cell biology
Chromatin
Coronavirus disease 2019 (COVID-19)
Dendritic spine
Disease
Ectodermal dysplasia
Ectrodactyly
Endocrinology
Exome sequencing
Exon
Fetus
Fibroblast growth factor
Fibroblast growth factor receptor 1
Hippocampal formation
Holoprosencephaly
Hormone
Hypogonadotropic hypogonadism
Infectious disease (medical specialty)
Internal medicine
Kabuki syndrome
Kallmann syndrome
Loss function
Medicine
Microcephaly
Missense mutation
Mutation