Resultados de procura - Deepthi C. de Silva
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1
<i>FGFR1</i>mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly por 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
Publicado 2013Artigo -
2
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum por Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai
Publicado 2011Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Gene
Genetics
Mutation
Phenotype
Coronavirus disease 2019 (COVID-19)
Disease
Ectodermal dysplasia
Ectrodactyly
Endocrinology
Epigenetics
Exome sequencing
Fetus
Fibroblast growth factor
Fibroblast growth factor receptor 1
Genetic heterogeneity
Genetic testing
Holoprosencephaly
Hormone
Hypogonadotropic hypogonadism
Infectious disease (medical specialty)
Internal medicine
Kabuki syndrome
Kallmann syndrome
Medicine
Missense mutation
Pregnancy
Receptor
Sanger sequencing